Name: rs646558
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs646558

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:113235185 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.301130 (79706/264690, TOPMED)
A=0.216652 (53744/248066, GnomAD_exome)
A=0.293253 (41083/140094, GnomAD) (+ 20 more)
A=0.224491 (28562/127230, ALFA)
A=0.221771 (26404/119060, ExAC)
A=0.29004 (3542/12212, GO-ESP)
A=0.3006 (1925/6404, 1000G_30x)
A=0.2913 (1459/5008, 1000G)
A=0.1714 (768/4480, Estonian)
A=0.2182 (841/3854, ALSPAC)
A=0.2211 (820/3708, TWINSUK)
A=0.2126 (623/2930, KOREAN)
A=0.3448 (649/1882, HapMap)
A=0.1572 (178/1132, Daghestan)
A=0.211 (211/998, GoNL)
A=0.255 (154/605, Vietnamese)
A=0.257 (154/600, NorthernSweden)
A=0.208 (111/534, MGP)
A=0.211 (64/304, FINRISK)
C=0.392 (94/240, SGDP_PRJ)
A=0.255 (55/216, Qatari)
A=0.15 (6/40, GENOME_DK)
C=0.4 (3/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NCAM1 : Intron Variant
Publications: 2 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	127230	C=0.775509	A=0.224491	0.607137	0.056119	0.336744	36
European	Sub	105670	C=0.796480	A=0.203520	0.634182	0.041223	0.324595	0
African	Sub	8230	C=0.5091	A=0.4909	0.263426	0.2452	0.491373	1
African Others	Sub	258	C=0.399	A=0.601	0.155039	0.356589	0.488372	0
African American	Sub	7972	C=0.5127	A=0.4873	0.266934	0.241596	0.49147	1
Asian	Sub	508	C=0.781	A=0.219	0.61811	0.055118	0.326772	0
East Asian	Sub	414	C=0.787	A=0.213	0.628019	0.05314	0.318841	0
Other Asian	Sub	94	C=0.76	A=0.24	0.574468	0.06383	0.361702	0
Latin American 1	Sub	296	C=0.713	A=0.287	0.527027	0.101351	0.371622	1
Latin American 2	Sub	5048	C=0.7577	A=0.2423	0.57607	0.060618	0.363312	0
South Asian	Sub	150	C=0.887	A=0.113	0.8	0.026667	0.173333	1
Other	Sub	7328	C=0.7844	A=0.2156	0.62309	0.054312	0.322598	5

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.698870	A=0.301130
gnomAD - Exomes	Global	Study-wide	248066	C=0.783348	A=0.216652
gnomAD - Exomes	European	Sub	133666	C=0.792490	A=0.207510
gnomAD - Exomes	Asian	Sub	48496	C=0.84258	A=0.15742
gnomAD - Exomes	American	Sub	34448	C=0.76980	A=0.23020
gnomAD - Exomes	African	Sub	15394	C=0.49961	A=0.50039
gnomAD - Exomes	Ashkenazi Jewish	Sub	10032	C=0.85636	A=0.14364
gnomAD - Exomes	Other	Sub	6030	C=0.7846	A=0.2154
gnomAD - Genomes	Global	Study-wide	140094	C=0.706747	A=0.293253
gnomAD - Genomes	European	Sub	75894	C=0.79312	A=0.20688
gnomAD - Genomes	African	Sub	41942	C=0.51276	A=0.48724
gnomAD - Genomes	American	Sub	13656	C=0.77204	A=0.22796
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.8568	A=0.1432
gnomAD - Genomes	East Asian	Sub	3126	C=0.7521	A=0.2479
gnomAD - Genomes	Other	Sub	2152	C=0.7296	A=0.2704
Allele Frequency Aggregator	Total	Global	127230	C=0.775509	A=0.224491
Allele Frequency Aggregator	European	Sub	105670	C=0.796480	A=0.203520
Allele Frequency Aggregator	African	Sub	8230	C=0.5091	A=0.4909
Allele Frequency Aggregator	Other	Sub	7328	C=0.7844	A=0.2156
Allele Frequency Aggregator	Latin American 2	Sub	5048	C=0.7577	A=0.2423
Allele Frequency Aggregator	Asian	Sub	508	C=0.781	A=0.219
Allele Frequency Aggregator	Latin American 1	Sub	296	C=0.713	A=0.287
Allele Frequency Aggregator	South Asian	Sub	150	C=0.887	A=0.113
ExAC	Global	Study-wide	119060	C=0.778229	A=0.221771
ExAC	Europe	Sub	72176	C=0.79216	A=0.20784
ExAC	Asian	Sub	24888	C=0.84583	A=0.15417
ExAC	American	Sub	11432	C=0.77274	A=0.22726
ExAC	African	Sub	9670	C=0.5053	A=0.4947
ExAC	Other	Sub	894	C=0.794	A=0.206
GO Exome Sequencing Project	Global	Study-wide	12212	C=0.70996	A=0.29004
GO Exome Sequencing Project	European American	Sub	8256	C=0.7974	A=0.2026
GO Exome Sequencing Project	African American	Sub	3956	C=0.5276	A=0.4724
1000Genomes_30x	Global	Study-wide	6404	C=0.6994	A=0.3006
1000Genomes_30x	African	Sub	1786	C=0.4541	A=0.5459
1000Genomes_30x	Europe	Sub	1266	C=0.7883	A=0.2117
1000Genomes_30x	South Asian	Sub	1202	C=0.8869	A=0.1131
1000Genomes_30x	East Asian	Sub	1170	C=0.7513	A=0.2487
1000Genomes_30x	American	Sub	980	C=0.740	A=0.260
1000Genomes	Global	Study-wide	5008	C=0.7087	A=0.2913
1000Genomes	African	Sub	1322	C=0.4592	A=0.5408
1000Genomes	East Asian	Sub	1008	C=0.7510	A=0.2490
1000Genomes	Europe	Sub	1006	C=0.7992	A=0.2008
1000Genomes	South Asian	Sub	978	C=0.889	A=0.111
1000Genomes	American	Sub	694	C=0.738	A=0.262
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8286	A=0.1714
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7818	A=0.2182
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7789	A=0.2211
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7874	A=0.2126, G=0.0000
HapMap	Global	Study-wide	1882	C=0.6552	A=0.3448
HapMap	American	Sub	766	C=0.751	A=0.249
HapMap	African	Sub	690	C=0.465	A=0.535
HapMap	Asian	Sub	250	C=0.792	A=0.208
HapMap	Europe	Sub	176	C=0.790	A=0.210
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	C=0.8428	A=0.1572
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.836	A=0.164
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.868	A=0.132
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	C=0.825	A=0.175
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.787	A=0.213
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	C=0.94	A=0.06
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.83	A=0.17
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.789	A=0.211
A Vietnamese Genetic Variation Database	Global	Study-wide	605	C=0.745	A=0.255
Northern Sweden	ACPOP	Study-wide	600	C=0.743	A=0.257
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.792	A=0.208
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.789	A=0.211
SGDP_PRJ	Global	Study-wide	240	C=0.392	A=0.608
Qatari	Global	Study-wide	216	C=0.745	A=0.255
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	A=0.15
Siberian	Global	Study-wide	8	C=0.4	A=0.6

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 11	NC_000011.10:g.113235185C>A
GRCh38.p14 chr 11	NC_000011.10:g.113235185C>G
GRCh38.p14 chr 11	NC_000011.10:g.113235185C>T
GRCh37.p13 chr 11	NC_000011.9:g.113105907C>A
GRCh37.p13 chr 11	NC_000011.9:g.113105907C>G
GRCh37.p13 chr 11	NC_000011.9:g.113105907C>T
NCAM1 RefSeqGene	NG_032036.2:g.278767C>A
NCAM1 RefSeqGene	NG_032036.2:g.278767C>G
NCAM1 RefSeqGene	NG_032036.2:g.278767C>T
NCAM1 RefSeqGene	NG_032036.1:g.278939C>A
NCAM1 RefSeqGene	NG_032036.1:g.278939C>G
NCAM1 RefSeqGene	NG_032036.1:g.278939C>T
GRCh37.p13 chr 11 fix patch HG306_PATCH	NW_003871078.1:g.417911C>A
GRCh37.p13 chr 11 fix patch HG306_PATCH	NW_003871078.1:g.417911C>G
GRCh37.p13 chr 11 fix patch HG306_PATCH	NW_003871078.1:g.417911C>T

Gene: NCAM1, neural cell adhesion molecule 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NCAM1 transcript variant 1	NM_000615.7:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 3	NM_001076682.4:c.1795+21C… NM_001076682.4:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 5	NM_001242607.2:c.1903+21C… NM_001242607.2:c.1903+21C>A	N/A	Intron Variant
NCAM1 transcript variant 4	NM_001242608.2:c.1795+21C… NM_001242608.2:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 6	NM_001386289.1:c.1825+21C… NM_001386289.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 7	NM_001386290.1:c.1825+21C… NM_001386290.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 8	NM_001386291.1:c.1795+21C… NM_001386291.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 9	NM_001386292.1:c.1795+21C… NM_001386292.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 10	NM_001400603.1:c.1795+21C… NM_001400603.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 11	NM_001400604.1:c.1825+21C… NM_001400604.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 12	NM_001400605.1:c.1795+21C… NM_001400605.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 13	NM_001400606.1:c.1720+21C… NM_001400606.1:c.1720+21C>A	N/A	Intron Variant
NCAM1 transcript variant 14	NM_001400607.1:c.1795+21C… NM_001400607.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 15	NM_001400608.1:c.1825+21C… NM_001400608.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 16	NM_001400609.1:c.1825+21C… NM_001400609.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 17	NM_001400610.1:c.1795+21C… NM_001400610.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 18	NM_001400611.1:c.931+21C>A	N/A	Intron Variant
NCAM1 transcript variant 19	NM_001400612.1:c.1903+21C… NM_001400612.1:c.1903+21C>A	N/A	Intron Variant
NCAM1 transcript variant 20	NM_001400613.1:c.931+21C>A	N/A	Intron Variant
NCAM1 transcript variant 21	NM_001400614.1:c.931+21C>A	N/A	Intron Variant
NCAM1 transcript variant 22	NM_001400615.1:c.1825+21C… NM_001400615.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 23	NM_001400616.1:c.1903+21C… NM_001400616.1:c.1903+21C>A	N/A	Intron Variant
NCAM1 transcript variant 24	NM_001400617.1:c.1795+21C… NM_001400617.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 25	NM_001400618.1:c.1795+21C… NM_001400618.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 26	NM_001400619.1:c.931+21C>A	N/A	Intron Variant
NCAM1 transcript variant 27	NM_001400620.1:c.1795+21C… NM_001400620.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 28	NM_001400621.1:c.1825+21C… NM_001400621.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 29	NM_001400622.1:c.1795+21C… NM_001400622.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 30	NM_001400623.1:c.1795+21C… NM_001400623.1:c.1795+21C>A	N/A	Intron Variant
NCAM1 transcript variant 31	NM_001400624.1:c.1825+21C… NM_001400624.1:c.1825+21C>A	N/A	Intron Variant
NCAM1 transcript variant 2	NM_181351.5:c.1825+21C>A	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	G	T
GRCh38.p14 chr 11	NC_000011.10:g.113235185=	NC_000011.10:g.113235185C>A	NC_000011.10:g.113235185C>G	NC_000011.10:g.113235185C>T
GRCh37.p13 chr 11	NC_000011.9:g.113105907=	NC_000011.9:g.113105907C>A	NC_000011.9:g.113105907C>G	NC_000011.9:g.113105907C>T
NCAM1 RefSeqGene	NG_032036.2:g.278767=	NG_032036.2:g.278767C>A	NG_032036.2:g.278767C>G	NG_032036.2:g.278767C>T
NCAM1 RefSeqGene	NG_032036.1:g.278939=	NG_032036.1:g.278939C>A	NG_032036.1:g.278939C>G	NG_032036.1:g.278939C>T
GRCh37.p13 chr 11 fix patch HG306_PATCH	NW_003871078.1:g.417911=	NW_003871078.1:g.417911C>A	NW_003871078.1:g.417911C>G	NW_003871078.1:g.417911C>T
NCAM1 transcript variant 1	NM_000615.6:c.1796+21=	NM_000615.6:c.1796+21C>A	NM_000615.6:c.1796+21C>G	NM_000615.6:c.1796+21C>T
NCAM1 transcript variant 1	NM_000615.7:c.1795+21=	NM_000615.7:c.1795+21C>A	NM_000615.7:c.1795+21C>G	NM_000615.7:c.1795+21C>T
NCAM1 transcript variant 3	NM_001076682.3:c.1796+21=	NM_001076682.3:c.1796+21C>A	NM_001076682.3:c.1796+21C>G	NM_001076682.3:c.1796+21C>T
NCAM1 transcript variant 3	NM_001076682.4:c.1795+21=	NM_001076682.4:c.1795+21C>A	NM_001076682.4:c.1795+21C>G	NM_001076682.4:c.1795+21C>T
NCAM1 transcript variant 5	NM_001242607.1:c.1904+21=	NM_001242607.1:c.1904+21C>A	NM_001242607.1:c.1904+21C>G	NM_001242607.1:c.1904+21C>T
NCAM1 transcript variant 5	NM_001242607.2:c.1903+21=	NM_001242607.2:c.1903+21C>A	NM_001242607.2:c.1903+21C>G	NM_001242607.2:c.1903+21C>T
NCAM1 transcript variant 4	NM_001242608.1:c.1796+21=	NM_001242608.1:c.1796+21C>A	NM_001242608.1:c.1796+21C>G	NM_001242608.1:c.1796+21C>T
NCAM1 transcript variant 4	NM_001242608.2:c.1795+21=	NM_001242608.2:c.1795+21C>A	NM_001242608.2:c.1795+21C>G	NM_001242608.2:c.1795+21C>T
NCAM1 transcript variant 6	NM_001386289.1:c.1825+21=	NM_001386289.1:c.1825+21C>A	NM_001386289.1:c.1825+21C>G	NM_001386289.1:c.1825+21C>T
NCAM1 transcript variant 7	NM_001386290.1:c.1825+21=	NM_001386290.1:c.1825+21C>A	NM_001386290.1:c.1825+21C>G	NM_001386290.1:c.1825+21C>T
NCAM1 transcript variant 8	NM_001386291.1:c.1795+21=	NM_001386291.1:c.1795+21C>A	NM_001386291.1:c.1795+21C>G	NM_001386291.1:c.1795+21C>T
NCAM1 transcript variant 9	NM_001386292.1:c.1795+21=	NM_001386292.1:c.1795+21C>A	NM_001386292.1:c.1795+21C>G	NM_001386292.1:c.1795+21C>T
NCAM1 transcript variant 10	NM_001400603.1:c.1795+21=	NM_001400603.1:c.1795+21C>A	NM_001400603.1:c.1795+21C>G	NM_001400603.1:c.1795+21C>T
NCAM1 transcript variant 11	NM_001400604.1:c.1825+21=	NM_001400604.1:c.1825+21C>A	NM_001400604.1:c.1825+21C>G	NM_001400604.1:c.1825+21C>T
NCAM1 transcript variant 12	NM_001400605.1:c.1795+21=	NM_001400605.1:c.1795+21C>A	NM_001400605.1:c.1795+21C>G	NM_001400605.1:c.1795+21C>T
NCAM1 transcript variant 13	NM_001400606.1:c.1720+21=	NM_001400606.1:c.1720+21C>A	NM_001400606.1:c.1720+21C>G	NM_001400606.1:c.1720+21C>T
NCAM1 transcript variant 14	NM_001400607.1:c.1795+21=	NM_001400607.1:c.1795+21C>A	NM_001400607.1:c.1795+21C>G	NM_001400607.1:c.1795+21C>T
NCAM1 transcript variant 15	NM_001400608.1:c.1825+21=	NM_001400608.1:c.1825+21C>A	NM_001400608.1:c.1825+21C>G	NM_001400608.1:c.1825+21C>T
NCAM1 transcript variant 16	NM_001400609.1:c.1825+21=	NM_001400609.1:c.1825+21C>A	NM_001400609.1:c.1825+21C>G	NM_001400609.1:c.1825+21C>T
NCAM1 transcript variant 17	NM_001400610.1:c.1795+21=	NM_001400610.1:c.1795+21C>A	NM_001400610.1:c.1795+21C>G	NM_001400610.1:c.1795+21C>T
NCAM1 transcript variant 18	NM_001400611.1:c.931+21=	NM_001400611.1:c.931+21C>A	NM_001400611.1:c.931+21C>G	NM_001400611.1:c.931+21C>T
NCAM1 transcript variant 19	NM_001400612.1:c.1903+21=	NM_001400612.1:c.1903+21C>A	NM_001400612.1:c.1903+21C>G	NM_001400612.1:c.1903+21C>T
NCAM1 transcript variant 20	NM_001400613.1:c.931+21=	NM_001400613.1:c.931+21C>A	NM_001400613.1:c.931+21C>G	NM_001400613.1:c.931+21C>T
NCAM1 transcript variant 21	NM_001400614.1:c.931+21=	NM_001400614.1:c.931+21C>A	NM_001400614.1:c.931+21C>G	NM_001400614.1:c.931+21C>T
NCAM1 transcript variant 22	NM_001400615.1:c.1825+21=	NM_001400615.1:c.1825+21C>A	NM_001400615.1:c.1825+21C>G	NM_001400615.1:c.1825+21C>T
NCAM1 transcript variant 23	NM_001400616.1:c.1903+21=	NM_001400616.1:c.1903+21C>A	NM_001400616.1:c.1903+21C>G	NM_001400616.1:c.1903+21C>T
NCAM1 transcript variant 24	NM_001400617.1:c.1795+21=	NM_001400617.1:c.1795+21C>A	NM_001400617.1:c.1795+21C>G	NM_001400617.1:c.1795+21C>T
NCAM1 transcript variant 25	NM_001400618.1:c.1795+21=	NM_001400618.1:c.1795+21C>A	NM_001400618.1:c.1795+21C>G	NM_001400618.1:c.1795+21C>T
NCAM1 transcript variant 26	NM_001400619.1:c.931+21=	NM_001400619.1:c.931+21C>A	NM_001400619.1:c.931+21C>G	NM_001400619.1:c.931+21C>T
NCAM1 transcript variant 27	NM_001400620.1:c.1795+21=	NM_001400620.1:c.1795+21C>A	NM_001400620.1:c.1795+21C>G	NM_001400620.1:c.1795+21C>T
NCAM1 transcript variant 28	NM_001400621.1:c.1825+21=	NM_001400621.1:c.1825+21C>A	NM_001400621.1:c.1825+21C>G	NM_001400621.1:c.1825+21C>T
NCAM1 transcript variant 29	NM_001400622.1:c.1795+21=	NM_001400622.1:c.1795+21C>A	NM_001400622.1:c.1795+21C>G	NM_001400622.1:c.1795+21C>T
NCAM1 transcript variant 30	NM_001400623.1:c.1795+21=	NM_001400623.1:c.1795+21C>A	NM_001400623.1:c.1795+21C>G	NM_001400623.1:c.1795+21C>T
NCAM1 transcript variant 31	NM_001400624.1:c.1825+21=	NM_001400624.1:c.1825+21C>A	NM_001400624.1:c.1825+21C>G	NM_001400624.1:c.1825+21C>T
NCAM1 transcript variant 2	NM_181351.4:c.1826+21=	NM_181351.4:c.1826+21C>A	NM_181351.4:c.1826+21C>G	NM_181351.4:c.1826+21C>T
NCAM1 transcript variant 2	NM_181351.5:c.1825+21=	NM_181351.5:c.1825+21C>A	NM_181351.5:c.1825+21C>G	NM_181351.5:c.1825+21C>T

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

126 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss819442	Aug 11, 2000 (83)
2	YUSUKE	ss4927077	Aug 28, 2002 (108)
3	SC_SNP	ss15619288	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19196479	Feb 27, 2004 (120)
5	SEQUENOM	ss24793346	Sep 20, 2004 (123)
6	HG_BONN_CNS_SNPS	ss28447242	Sep 20, 2004 (123)
7	ABI	ss38679361	Mar 14, 2006 (126)
8	ILLUMINA	ss65787546	Oct 16, 2006 (127)
9	RSG_JCVI	ss69361878	May 17, 2007 (127)
10	ILLUMINA	ss74876433	Dec 06, 2007 (129)
11	KRIBB_YJKIM	ss80755361	Dec 14, 2007 (130)
12	HGSV	ss83112053	Dec 14, 2007 (130)
13	BGI	ss103002018	Dec 01, 2009 (131)
14	1000GENOMES	ss115196073	Jan 25, 2009 (130)
15	KRIBB_YJKIM	ss119361359	Dec 01, 2009 (131)
16	ILLUMINA-UK	ss119961035	Dec 01, 2009 (131)
17	GMI	ss156809842	Dec 01, 2009 (131)
18	ILLUMINA	ss160776583	Dec 01, 2009 (131)
19	ENSEMBL	ss161385130	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss170911324	Jul 04, 2010 (132)
21	ILLUMINA	ss174008939	Jul 04, 2010 (132)
22	BUSHMAN	ss203226729	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss207635509	Jul 04, 2010 (132)
24	1000GENOMES	ss225468982	Jul 14, 2010 (132)
25	1000GENOMES	ss235724313	Jul 15, 2010 (132)
26	1000GENOMES	ss242321530	Jul 15, 2010 (132)
27	ILLUMINA	ss244304984	Jul 04, 2010 (132)
28	GMI	ss281176251	May 04, 2012 (137)
29	PJP	ss291142632	May 09, 2011 (134)
30	ILLUMINA	ss481250305	May 04, 2012 (137)
31	ILLUMINA	ss481274465	May 04, 2012 (137)
32	ILLUMINA	ss482259688	Sep 11, 2015 (146)
33	ILLUMINA	ss485420539	May 04, 2012 (137)
34	CLINSEQ_SNP	ss491654111	May 04, 2012 (137)
35	ILLUMINA	ss537352333	Sep 11, 2015 (146)
36	TISHKOFF	ss562834630	Apr 25, 2013 (138)
37	SSMP	ss658357652	Apr 25, 2013 (138)
38	NHLBI-ESP	ss713049198	Apr 25, 2013 (138)
39	ILLUMINA	ss778940694	Sep 11, 2015 (146)
40	ILLUMINA	ss783155702	Aug 21, 2014 (142)
41	ILLUMINA	ss784111585	Sep 11, 2015 (146)
42	ILLUMINA	ss832414991	Apr 09, 2015 (144)
43	ILLUMINA	ss834402396	Sep 11, 2015 (146)
44	JMKIDD_LAB	ss974481163	Aug 21, 2014 (142)
45	EVA-GONL	ss988977121	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1067528158	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1078055715	Aug 21, 2014 (142)
48	1000GENOMES	ss1343019546	Aug 21, 2014 (142)
49	HAMMER_LAB	ss1397617534	Sep 08, 2015 (146)
50	DDI	ss1426765250	Apr 09, 2015 (144)
51	EVA_GENOME_DK	ss1575960863	Apr 09, 2015 (144)
52	EVA_FINRISK	ss1584078035	Apr 09, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1627491569	Apr 09, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1670485602	Apr 09, 2015 (144)
55	EVA_EXAC	ss1690635165	Apr 09, 2015 (144)
56	EVA_MGP	ss1711308954	Apr 09, 2015 (144)
57	EVA_SVP	ss1713285722	Apr 01, 2015 (144)
58	ILLUMINA	ss1751994935	Sep 11, 2015 (146)
59	HAMMER_LAB	ss1807003273	Sep 11, 2015 (146)
60	WEILL_CORNELL_DGM	ss1932338290	Feb 17, 2016 (147)
61	JJLAB	ss2026913091	Sep 28, 2016 (149)
62	USC_VALOUEV	ss2155225616	Oct 12, 2018 (152)
63	HUMAN_LONGEVITY	ss2185818923	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2627931441	Oct 12, 2018 (152)
65	ILLUMINA	ss2632888865	Oct 12, 2018 (152)
66	ILLUMINA	ss2635030537	Nov 08, 2017 (151)
67	GRF	ss2699535749	Oct 12, 2018 (152)
68	GNOMAD	ss2739392145	Oct 12, 2018 (152)
69	GNOMAD	ss2748740752	Oct 12, 2018 (152)
70	GNOMAD	ss2904611042	Oct 12, 2018 (152)
71	SWEGEN	ss3008801895	Oct 12, 2018 (152)
72	BIOINF_KMB_FNS_UNIBA	ss3027257195	Nov 08, 2017 (151)
73	CSHL	ss3349801110	Oct 12, 2018 (152)
74	ILLUMINA	ss3626752688	Oct 12, 2018 (152)
75	ILLUMINA	ss3630902741	Oct 12, 2018 (152)
76	ILLUMINA	ss3632999779	Oct 12, 2018 (152)
77	ILLUMINA	ss3633699748	Oct 12, 2018 (152)
78	ILLUMINA	ss3634475808	Oct 12, 2018 (152)
79	ILLUMINA	ss3635391024	Oct 12, 2018 (152)
80	ILLUMINA	ss3636160157	Oct 12, 2018 (152)
81	ILLUMINA	ss3637141927	Oct 12, 2018 (152)
82	ILLUMINA	ss3637931080	Oct 12, 2018 (152)
83	ILLUMINA	ss3640183144	Oct 12, 2018 (152)
84	ILLUMINA	ss3642927499	Oct 12, 2018 (152)
85	OMUKHERJEE_ADBS	ss3646432830	Oct 12, 2018 (152)
86	ILLUMINA	ss3651744591	Oct 12, 2018 (152)
87	EGCUT_WGS	ss3676129191	Jul 13, 2019 (153)
88	EVA_DECODE	ss3692625100	Jul 13, 2019 (153)
89	ACPOP	ss3738551595	Jul 13, 2019 (153)
90	ILLUMINA	ss3744776584	Jul 13, 2019 (153)
91	EVA	ss3749828530	Jul 13, 2019 (153)
92	ILLUMINA	ss3772276349	Jul 13, 2019 (153)
93	PACBIO	ss3787071433	Jul 13, 2019 (153)
94	PACBIO	ss3792195041	Jul 13, 2019 (153)
95	PACBIO	ss3797077557	Jul 13, 2019 (153)
96	KHV_HUMAN_GENOMES	ss3815158994	Jul 13, 2019 (153)
97	EVA	ss3824671839	Apr 26, 2020 (154)
98	EVA	ss3825809488	Apr 26, 2020 (154)
99	EVA	ss3832845601	Apr 26, 2020 (154)
100	EVA	ss3839985179	Apr 26, 2020 (154)
101	EVA	ss3845466893	Apr 26, 2020 (154)
102	SGDP_PRJ	ss3877165026	Apr 26, 2020 (154)
103	KRGDB	ss3925622929	Apr 26, 2020 (154)
104	FSA-LAB	ss3984013603	Apr 26, 2021 (155)
105	EVA	ss3986545482	Apr 26, 2021 (155)
106	EVA	ss4017559649	Apr 26, 2021 (155)
107	GNOMAD	ss4242799171	Apr 26, 2021 (155)
108	TOPMED	ss4900453519	Apr 26, 2021 (155)
109	TOMMO_GENOMICS	ss5203949933	Apr 26, 2021 (155)
110	TOMMO_GENOMICS	ss5203949934	Apr 26, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5288949163	Oct 16, 2022 (156)
112	EVA	ss5315577618	Oct 16, 2022 (156)
113	EVA	ss5402329000	Oct 16, 2022 (156)
114	HUGCELL_USP	ss5483933308	Oct 16, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5585458439	Oct 16, 2022 (156)
116	EVA	ss5623955250	Oct 16, 2022 (156)
117	EVA	ss5624025604	Oct 16, 2022 (156)
118	SANFORD_IMAGENETICS	ss5652099485	Oct 16, 2022 (156)
119	TOMMO_GENOMICS	ss5752414664	Oct 16, 2022 (156)
120	TOMMO_GENOMICS	ss5752414665	Oct 16, 2022 (156)
121	YY_MCH	ss5812788343	Oct 16, 2022 (156)
122	EVA	ss5837247989	Oct 16, 2022 (156)
123	EVA	ss5848337261	Oct 16, 2022 (156)
124	EVA	ss5850156650	Oct 16, 2022 (156)
125	EVA	ss5921711732	Oct 16, 2022 (156)
126	EVA	ss5943429550	Oct 16, 2022 (156)
127	1000Genomes	NC_000011.9 - 113105907	Oct 12, 2018 (152)
128	1000Genomes_30x	NC_000011.10 - 113235185	Oct 16, 2022 (156)
129	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 113105907	Oct 12, 2018 (152)
130	Genome-wide autozygosity in Daghestan	NC_000011.8 - 112611117	Apr 26, 2020 (154)
131	Genetic variation in the Estonian population	NC_000011.9 - 113105907	Oct 12, 2018 (152)
132	ExAC	NC_000011.9 - 113105907	Oct 12, 2018 (152)
133	FINRISK	NC_000011.9 - 113105907	Apr 26, 2020 (154)
134	The Danish reference pan genome	NC_000011.9 - 113105907	Apr 26, 2020 (154)
135	gnomAD - Genomes	NC_000011.10 - 113235185	Apr 26, 2021 (155)
136	gnomAD - Exomes	NC_000011.9 - 113105907	Jul 13, 2019 (153)
137	GO Exome Sequencing Project	NC_000011.9 - 113105907	Oct 12, 2018 (152)
138	Genome of the Netherlands Release 5	NC_000011.9 - 113105907	Apr 26, 2020 (154)
139	HapMap	NC_000011.10 - 113235185	Apr 26, 2020 (154)
140	KOREAN population from KRGDB	NC_000011.9 - 113105907	Apr 26, 2020 (154)
141	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 113105907	Apr 26, 2020 (154)
142	Northern Sweden	NC_000011.9 - 113105907	Jul 13, 2019 (153)
143	Qatari	NC_000011.9 - 113105907	Apr 26, 2020 (154)
144	SGDP_PRJ	NC_000011.9 - 113105907	Apr 26, 2020 (154)
145	Siberian	NC_000011.9 - 113105907	Apr 26, 2020 (154)
146	8.3KJPN Submission ignored due to conflicting rows: Row 61919240 (NC_000011.9:113105906:C:A 3464/16758) Row 61919241 (NC_000011.9:113105906:C:T 2/16758)	-	Apr 26, 2021 (155)
147	8.3KJPN Submission ignored due to conflicting rows: Row 61919240 (NC_000011.9:113105906:C:A 3464/16758) Row 61919241 (NC_000011.9:113105906:C:T 2/16758)	-	Apr 26, 2021 (155)
148	14KJPN Submission ignored due to conflicting rows: Row 86251768 (NC_000011.10:113235184:C:A 5847/28258) Row 86251769 (NC_000011.10:113235184:C:T 3/28258)	-	Oct 16, 2022 (156)
149	14KJPN Submission ignored due to conflicting rows: Row 86251768 (NC_000011.10:113235184:C:A 5847/28258) Row 86251769 (NC_000011.10:113235184:C:T 3/28258)	-	Oct 16, 2022 (156)
150	TopMed	NC_000011.10 - 113235185	Apr 26, 2021 (155)
151	UK 10K study - Twins	NC_000011.9 - 113105907	Oct 12, 2018 (152)
152	A Vietnamese Genetic Variation Database	NC_000011.9 - 113105907	Jul 13, 2019 (153)
153	ALFA	NC_000011.10 - 113235185	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs3741073	Oct 08, 2002 (108)
rs56823866	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
88624, ss83112053, ss115196073, ss119961035, ss170911324, ss203226729, ss207635509, ss281176251, ss291142632, ss481250305, ss491654111, ss1397617534, ss1713285722, ss2635030537, ss3642927499	NC_000011.8:112611116:C:A	NC_000011.10:113235184:C:A	(self)
55603814, 30863820, 21867439, 911435, 74496, 2740990, 8610859, 1129374, 13773732, 32800323, 424714, 11836460, 14380220, 29182006, 7741970, 30863820, 6849994, ss225468982, ss235724313, ss242321530, ss481274465, ss482259688, ss485420539, ss537352333, ss562834630, ss658357652, ss713049198, ss778940694, ss783155702, ss784111585, ss832414991, ss834402396, ss974481163, ss988977121, ss1067528158, ss1078055715, ss1343019546, ss1426765250, ss1575960863, ss1584078035, ss1627491569, ss1670485602, ss1690635165, ss1711308954, ss1751994935, ss1807003273, ss1932338290, ss2026913091, ss2155225616, ss2627931441, ss2632888865, ss2699535749, ss2739392145, ss2748740752, ss2904611042, ss3008801895, ss3349801110, ss3626752688, ss3630902741, ss3632999779, ss3633699748, ss3634475808, ss3635391024, ss3636160157, ss3637141927, ss3637931080, ss3640183144, ss3646432830, ss3651744591, ss3676129191, ss3738551595, ss3744776584, ss3749828530, ss3772276349, ss3787071433, ss3792195041, ss3797077557, ss3824671839, ss3825809488, ss3832845601, ss3839985179, ss3877165026, ss3925622929, ss3984013603, ss3986545482, ss4017559649, ss5203949933, ss5315577618, ss5402329000, ss5623955250, ss5624025604, ss5652099485, ss5837247989, ss5848337261, ss5943429550	NC_000011.9:113105906:C:A	NC_000011.10:113235184:C:A	(self)
72984374, 392358360, 702083, 115999175, 10432261266, ss2185818923, ss3027257195, ss3692625100, ss3815158994, ss3845466893, ss4242799171, ss4900453519, ss5288949163, ss5483933308, ss5585458439, ss5752414664, ss5812788343, ss5850156650, ss5921711732	NC_000011.10:113235184:C:A	NC_000011.10:113235184:C:A	(self)
ss15619288, ss19196479	NT_033899.6:16649690:C:A	NC_000011.10:113235184:C:A	(self)
ss819442, ss4927077, ss24793346, ss28447242, ss38679361, ss65787546, ss69361878, ss74876433, ss80755361, ss103002018, ss119361359, ss156809842, ss160776583, ss161385130, ss174008939, ss244304984	NT_033899.8:16668322:C:A	NC_000011.10:113235184:C:A	(self)
32800323, ss3925622929	NC_000011.9:113105906:C:G	NC_000011.10:113235184:C:G	(self)
ss5203949934	NC_000011.9:113105906:C:T	NC_000011.10:113235184:C:T	(self)
ss5752414665	NC_000011.10:113235184:C:T	NC_000011.10:113235184:C:T

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs646558

PMID	Title	Author	Year	Journal
17413444	NCAM1 association study of bipolar disorder and schizophrenia: polymorphisms and alternatively spliced isoforms lead to similarities and differences.	Atz ME et al.	2007	Psychiatric genetics
24651862	Characterisation of genetic variation in ST8SIA2 and its interaction region in NCAM1 in patients with bipolar disorder.	Shaw AD et al.	2014	PloS one

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs646558