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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2279323

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:53226887 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.164120 (43441/264690, TOPMED)
C=0.167574 (39543/235974, GnomAD_exome)
C=0.168623 (19397/115032, ExAC) (+ 21 more)
C=0.12103 (3420/28258, 14KJPN)
C=0.10310 (2472/23976, ALFA)
C=0.12094 (2027/16760, 8.3KJPN)
C=0.17861 (2323/13006, GO-ESP)
C=0.1427 (914/6404, 1000G_30x)
C=0.1406 (704/5008, 1000G)
C=0.1705 (764/4480, Estonian)
C=0.1995 (769/3854, ALSPAC)
C=0.1966 (729/3708, TWINSUK)
C=0.0825 (241/2920, KOREAN)
C=0.0868 (159/1832, Korea1K)
C=0.190 (190/998, GoNL)
C=0.053 (32/608, Vietnamese)
C=0.165 (99/600, NorthernSweden)
C=0.191 (102/534, MGP)
C=0.146 (48/328, HapMap)
C=0.226 (66/292, FINRISK)
C=0.208 (45/216, Qatari)
G=0.444 (64/144, SGDP_PRJ)
C=0.30 (12/40, GENOME_DK)
G=0.45 (10/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TKT : Intron Variant
Publications
0 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 23976 G=0.89690 A=0.00000, C=0.10310 0.813564 0.01977 0.166667 32
European Sub 17388 G=0.89021 A=0.00000, C=0.10979 0.801587 0.021164 0.177249 32
African Sub 2794 G=0.9653 A=0.0000, C=0.0347 0.934145 0.003579 0.062276 4
African Others Sub 96 G=0.99 A=0.00, C=0.01 0.979167 0.0 0.020833 0
African American Sub 2698 G=0.9644 A=0.0000, C=0.0356 0.932543 0.003706 0.063751 4
Asian Sub 152 G=0.980 A=0.000, C=0.020 0.960526 0.0 0.039474 0
East Asian Sub 98 G=0.99 A=0.00, C=0.01 0.979592 0.0 0.020408 0
Other Asian Sub 54 G=0.96 A=0.00, C=0.04 0.925926 0.0 0.074074 0
Latin American 1 Sub 98 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 500 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 68 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Other Sub 2976 G=0.8444 A=0.0000, C=0.1556 0.721102 0.032258 0.24664 4


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.835880 C=0.164120
gnomAD - Exomes Global Study-wide 235974 G=0.832426 C=0.167574
gnomAD - Exomes European Sub 126664 G=0.808762 C=0.191238
gnomAD - Exomes Asian Sub 45720 G=0.84514 C=0.15486
gnomAD - Exomes American Sub 33242 G=0.88824 C=0.11176
gnomAD - Exomes African Sub 16074 G=0.85299 C=0.14701
gnomAD - Exomes Ashkenazi Jewish Sub 8540 G=0.8583 C=0.1417
gnomAD - Exomes Other Sub 5734 G=0.8340 C=0.1660
ExAC Global Study-wide 115032 G=0.831377 C=0.168623
ExAC Europe Sub 71010 G=0.81704 C=0.18296
ExAC Asian Sub 21424 G=0.83542 C=0.16458
ExAC American Sub 11478 G=0.89319 C=0.10681
ExAC African Sub 10292 G=0.85396 C=0.14604
ExAC Other Sub 828 G=0.819 C=0.181
14KJPN JAPANESE Study-wide 28258 G=0.87897 C=0.12103
Allele Frequency Aggregator Total Global 23976 G=0.89690 A=0.00000, C=0.10310
Allele Frequency Aggregator European Sub 17388 G=0.89021 A=0.00000, C=0.10979
Allele Frequency Aggregator Other Sub 2976 G=0.8444 A=0.0000, C=0.1556
Allele Frequency Aggregator African Sub 2794 G=0.9653 A=0.0000, C=0.0347
Allele Frequency Aggregator Latin American 2 Sub 500 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 152 G=0.980 A=0.000, C=0.020
Allele Frequency Aggregator Latin American 1 Sub 98 G=1.00 A=0.00, C=0.00
Allele Frequency Aggregator South Asian Sub 68 G=1.00 A=0.00, C=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.87906 C=0.12094
GO Exome Sequencing Project Global Study-wide 13006 G=0.82139 C=0.17861
GO Exome Sequencing Project European American Sub 8600 G=0.8072 C=0.1928
GO Exome Sequencing Project African American Sub 4406 G=0.8491 C=0.1509
1000Genomes_30x Global Study-wide 6404 G=0.8573 C=0.1427
1000Genomes_30x African Sub 1786 G=0.8791 C=0.1209
1000Genomes_30x Europe Sub 1266 G=0.8270 C=0.1730
1000Genomes_30x South Asian Sub 1202 G=0.8295 C=0.1705
1000Genomes_30x East Asian Sub 1170 G=0.8915 C=0.1085
1000Genomes_30x American Sub 980 G=0.850 C=0.150
1000Genomes Global Study-wide 5008 G=0.8594 C=0.1406
1000Genomes African Sub 1322 G=0.8790 C=0.1210
1000Genomes East Asian Sub 1008 G=0.8909 C=0.1091
1000Genomes Europe Sub 1006 G=0.8320 C=0.1680
1000Genomes South Asian Sub 978 G=0.831 C=0.169
1000Genomes American Sub 694 G=0.856 C=0.144
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8295 C=0.1705
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8005 C=0.1995
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8034 C=0.1966
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.9175 C=0.0825
Korean Genome Project KOREAN Study-wide 1832 G=0.9132 C=0.0868
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.810 C=0.190
A Vietnamese Genetic Variation Database Global Study-wide 608 G=0.947 C=0.053
Northern Sweden ACPOP Study-wide 600 G=0.835 C=0.165
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.809 C=0.191
HapMap Global Study-wide 328 G=0.854 C=0.146
HapMap African Sub 120 G=0.892 C=0.108
HapMap American Sub 118 G=0.831 C=0.169
HapMap Asian Sub 90 G=0.83 C=0.17
FINRISK Finnish from FINRISK project Study-wide 292 G=0.774 C=0.226
Qatari Global Study-wide 216 G=0.792 C=0.208
SGDP_PRJ Global Study-wide 144 G=0.444 C=0.556
The Danish reference pan genome Danish Study-wide 40 G=0.70 C=0.30
Siberian Global Study-wide 22 G=0.45 C=0.55
Help

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 3 NC_000003.12:g.53226887G>A
GRCh38.p14 chr 3 NC_000003.12:g.53226887G>C
GRCh37.p13 chr 3 NC_000003.11:g.53260903G>A
GRCh37.p13 chr 3 NC_000003.11:g.53260903G>C
TKT RefSeqGene NG_027815.1:g.34228C>T
TKT RefSeqGene NG_027815.1:g.34228C>G
GRCh37.p13 chr 3 fix patch HG957_PATCH NW_004775426.1:g.75842G>A
GRCh37.p13 chr 3 fix patch HG957_PATCH NW_004775426.1:g.75842G>C
Gene: TKT, transketolase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TKT transcript variant 1 NM_001064.4:c.1574-9C>T N/A Intron Variant
TKT transcript variant 2 NM_001135055.3:c.1574-9C>T N/A Intron Variant
TKT transcript variant 3 NM_001258028.2:c.1598-9C>T N/A Intron Variant
TKT transcript variant 5 NR_047580.2:n. N/A Intron Variant
TKT transcript variant X1 XM_011534054.2:c.1598-9C>T N/A Intron Variant
Help

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
Help

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 G= A C
GRCh38.p14 chr 3 NC_000003.12:g.53226887= NC_000003.12:g.53226887G>A NC_000003.12:g.53226887G>C
GRCh37.p13 chr 3 NC_000003.11:g.53260903= NC_000003.11:g.53260903G>A NC_000003.11:g.53260903G>C
TKT RefSeqGene NG_027815.1:g.34228= NG_027815.1:g.34228C>T NG_027815.1:g.34228C>G
GRCh37.p13 chr 3 fix patch HG957_PATCH NW_004775426.1:g.75842= NW_004775426.1:g.75842G>A NW_004775426.1:g.75842G>C
TKT transcript variant 1 NM_001064.3:c.1574-9= NM_001064.3:c.1574-9C>T NM_001064.3:c.1574-9C>G
TKT transcript variant 1 NM_001064.4:c.1574-9= NM_001064.4:c.1574-9C>T NM_001064.4:c.1574-9C>G
TKT transcript variant 2 NM_001135055.2:c.1574-9= NM_001135055.2:c.1574-9C>T NM_001135055.2:c.1574-9C>G
TKT transcript variant 2 NM_001135055.3:c.1574-9= NM_001135055.3:c.1574-9C>T NM_001135055.3:c.1574-9C>G
TKT transcript variant 3 NM_001258028.1:c.1598-9= NM_001258028.1:c.1598-9C>T NM_001258028.1:c.1598-9C>G
TKT transcript variant 3 NM_001258028.2:c.1598-9= NM_001258028.2:c.1598-9C>T NM_001258028.2:c.1598-9C>G
TKT transcript variant X1 XM_011534054.2:c.1598-9= XM_011534054.2:c.1598-9C>T XM_011534054.2:c.1598-9C>G
Help

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#.

81 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3216889 Sep 28, 2001 (100)
2 BCM_SSAHASNP ss10025471 Jul 11, 2003 (116)
3 ILLUMINA ss65726528 Oct 13, 2006 (127)
4 HGSV ss78744796 Dec 07, 2007 (129)
5 KRIBB_YJKIM ss104800383 Feb 05, 2009 (130)
6 ILLUMINA-UK ss117082327 Feb 14, 2009 (130)
7 1000GENOMES ss220134416 Jul 14, 2010 (132)
8 1000GENOMES ss231818856 Jul 14, 2010 (132)
9 1000GENOMES ss239233077 Jul 15, 2010 (132)
10 BL ss253089543 May 09, 2011 (134)
11 GMI ss277123765 May 04, 2012 (137)
12 PJP ss292795432 May 09, 2011 (134)
13 1000GENOMES ss489884966 May 04, 2012 (137)
14 CLINSEQ_SNP ss491836143 May 04, 2012 (137)
15 ILLUMINA ss535345800 Sep 11, 2015 (146)
16 TISHKOFF ss556611634 Apr 25, 2013 (138)
17 SSMP ss650289738 Apr 25, 2013 (138)
18 NHLBI-ESP ss712531158 Apr 25, 2013 (138)
19 EVA-GONL ss978586853 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1067452016 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1070404161 Aug 21, 2014 (142)
22 1000GENOMES ss1303991140 Aug 21, 2014 (142)
23 DDI ss1429418314 Apr 09, 2015 (144)
24 EVA_GENOME_DK ss1579960778 Apr 09, 2015 (144)
25 EVA_FINRISK ss1584028292 Apr 09, 2015 (144)
26 EVA_DECODE ss1588058223 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1607062217 Apr 09, 2015 (144)
28 EVA_UK10K_TWINSUK ss1650056250 Apr 09, 2015 (144)
29 EVA_EXAC ss1687058630 Apr 09, 2015 (144)
30 EVA_MGP ss1711019681 Apr 09, 2015 (144)
31 HAMMER_LAB ss1799271728 Sep 11, 2015 (146)
32 WEILL_CORNELL_DGM ss1921826666 Feb 17, 2016 (147)
33 JJLAB ss2021472387 Sep 28, 2016 (149)
34 USC_VALOUEV ss2149546068 Oct 12, 2018 (152)
35 HUMAN_LONGEVITY ss2251555492 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2625234582 Oct 12, 2018 (152)
37 GRF ss2704919393 Oct 12, 2018 (152)
38 GNOMAD ss2733834417 Oct 12, 2018 (152)
39 GNOMAD ss2747031157 Oct 12, 2018 (152)
40 GNOMAD ss2792942447 Oct 12, 2018 (152)
41 SWEGEN ss2992310234 Oct 12, 2018 (152)
42 BIOINF_KMB_FNS_UNIBA ss3024497736 Nov 08, 2017 (151)
43 CSHL ss3345016025 Oct 12, 2018 (152)
44 ILLUMINA ss3628660247 Oct 12, 2018 (152)
45 OMUKHERJEE_ADBS ss3646286981 Oct 12, 2018 (152)
46 EGCUT_WGS ss3660232078 Jul 13, 2019 (153)
47 EVA_DECODE ss3709225770 Jul 13, 2019 (153)
48 ACPOP ss3729882816 Jul 13, 2019 (153)
49 EVA ss3760028703 Jul 13, 2019 (153)
50 PACBIO ss3784313086 Jul 13, 2019 (153)
51 PACBIO ss3789828851 Jul 13, 2019 (153)
52 PACBIO ss3794702810 Jul 13, 2019 (153)
53 KHV_HUMAN_GENOMES ss3803164779 Jul 13, 2019 (153)
54 EVA ss3823924547 Apr 25, 2020 (154)
55 EVA ss3825635009 Apr 25, 2020 (154)
56 EVA ss3827806744 Apr 25, 2020 (154)
57 SGDP_PRJ ss3855838449 Apr 25, 2020 (154)
58 KRGDB ss3901696245 Apr 25, 2020 (154)
59 KOGIC ss3951265346 Apr 25, 2020 (154)
60 FSA-LAB ss3984252234 Apr 26, 2021 (155)
61 FSA-LAB ss3984252235 Apr 26, 2021 (155)
62 EVA ss3986241748 Apr 26, 2021 (155)
63 GNOMAD ss4071098175 Apr 26, 2021 (155)
64 GNOMAD ss4071098176 Apr 26, 2021 (155)
65 TOPMED ss4564626973 Apr 26, 2021 (155)
66 TOMMO_GENOMICS ss5159154509 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5254076542 Oct 12, 2022 (156)
68 EVA ss5339794185 Oct 12, 2022 (156)
69 HUGCELL_USP ss5453467627 Oct 12, 2022 (156)
70 EVA ss5506992073 Oct 12, 2022 (156)
71 1000G_HIGH_COVERAGE ss5532440184 Oct 12, 2022 (156)
72 EVA ss5624128671 Oct 12, 2022 (156)
73 SANFORD_IMAGENETICS ss5632123099 Oct 12, 2022 (156)
74 TOMMO_GENOMICS ss5690819019 Oct 12, 2022 (156)
75 YY_MCH ss5803734980 Oct 12, 2022 (156)
76 EVA ss5825750729 Oct 12, 2022 (156)
77 EVA ss5848584281 Oct 12, 2022 (156)
78 EVA ss5853609504 Oct 12, 2022 (156)
79 EVA ss5868822885 Oct 12, 2022 (156)
80 EVA ss5936521156 Oct 12, 2022 (156)
81 EVA ss5960416434 Oct 12, 2022 (156)
82 1000Genomes NC_000003.11 - 53260903 Oct 12, 2018 (152)
83 1000Genomes_30x NC_000003.12 - 53226887 Oct 12, 2022 (156)
84 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 53260903 Oct 12, 2018 (152)
85 Genetic variation in the Estonian population NC_000003.11 - 53260903 Oct 12, 2018 (152)
86 ExAC NC_000003.11 - 53260903 Oct 12, 2018 (152)
87 FINRISK NC_000003.11 - 53260903 Apr 25, 2020 (154)
88 The Danish reference pan genome NC_000003.11 - 53260903 Apr 25, 2020 (154)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 107767693 (NC_000003.12:53226886:G:A 1/140164)
Row 107767694 (NC_000003.12:53226886:G:C 23977/140136)

- Apr 26, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 107767693 (NC_000003.12:53226886:G:A 1/140164)
Row 107767694 (NC_000003.12:53226886:G:C 23977/140136)

- Apr 26, 2021 (155)
91 gnomAD - Exomes NC_000003.11 - 53260903 Jul 13, 2019 (153)
92 GO Exome Sequencing Project NC_000003.11 - 53260903 Oct 12, 2018 (152)
93 Genome of the Netherlands Release 5 NC_000003.11 - 53260903 Apr 25, 2020 (154)
94 HapMap NC_000003.12 - 53226887 Apr 25, 2020 (154)
95 KOREAN population from KRGDB NC_000003.11 - 53260903 Apr 25, 2020 (154)
96 Korean Genome Project NC_000003.12 - 53226887 Apr 25, 2020 (154)
97 Medical Genome Project healthy controls from Spanish population NC_000003.11 - 53260903 Apr 25, 2020 (154)
98 Northern Sweden NC_000003.11 - 53260903 Jul 13, 2019 (153)
99 Qatari NC_000003.11 - 53260903 Apr 25, 2020 (154)
100 SGDP_PRJ NC_000003.11 - 53260903 Apr 25, 2020 (154)
101 Siberian NC_000003.11 - 53260903 Apr 25, 2020 (154)
102 8.3KJPN NC_000003.11 - 53260903 Apr 26, 2021 (155)
103 14KJPN NC_000003.12 - 53226887 Oct 12, 2022 (156)
104 TopMed NC_000003.12 - 53226887 Apr 26, 2021 (155)
105 UK 10K study - Twins NC_000003.11 - 53260903 Oct 12, 2018 (152)
106 A Vietnamese Genetic Variation Database NC_000003.11 - 53260903 Jul 13, 2019 (153)
107 ALFA NC_000003.12 - 53226887 Apr 26, 2021 (155)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2747031157, ss2792942447 NC_000003.11:53260902:G:A NC_000003.12:53226886:G:A (self)
6668431457, ss4071098175 NC_000003.12:53226886:G:A NC_000003.12:53226886:G:A (self)
ss78744796 NC_000003.9:53235942:G:C NC_000003.12:53226886:G:C (self)
ss117082327, ss253089543, ss277123765, ss292795432, ss491836143, ss1588058223 NC_000003.10:53235942:G:C NC_000003.12:53226886:G:C (self)
15178721, 8441654, 5970326, 6986369, 24753, 6125717, 2913629, 382871, 3701474, 8873639, 136220, 3167681, 3868596, 7855429, 2062422, 17123816, 8441654, 1833218, ss220134416, ss231818856, ss239233077, ss489884966, ss535345800, ss556611634, ss650289738, ss712531158, ss978586853, ss1067452016, ss1070404161, ss1303991140, ss1429418314, ss1579960778, ss1584028292, ss1607062217, ss1650056250, ss1687058630, ss1711019681, ss1799271728, ss1921826666, ss2021472387, ss2149546068, ss2625234582, ss2704919393, ss2733834417, ss2747031157, ss2792942447, ss2992310234, ss3345016025, ss3628660247, ss3646286981, ss3660232078, ss3729882816, ss3760028703, ss3784313086, ss3789828851, ss3794702810, ss3823924547, ss3825635009, ss3827806744, ss3855838449, ss3901696245, ss3984252234, ss3984252235, ss3986241748, ss5159154509, ss5339794185, ss5506992073, ss5624128671, ss5632123099, ss5825750729, ss5848584281, ss5936521156, ss5960416434 NC_000003.11:53260902:G:C NC_000003.12:53226886:G:C (self)
19966119, 2358427, 7643347, 24656123, 402004528, 6668431457, ss2251555492, ss3024497736, ss3709225770, ss3803164779, ss3951265346, ss4071098176, ss4564626973, ss5254076542, ss5453467627, ss5532440184, ss5690819019, ss5803734980, ss5853609504, ss5868822885 NC_000003.12:53226886:G:C NC_000003.12:53226886:G:C (self)
ss10025471 NT_005999.15:2198711:G:C NC_000003.12:53226886:G:C (self)
ss3216889, ss65726528, ss104800383 NT_022517.18:53200902:G:C NC_000003.12:53226886:G:C (self)
Help

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

No publications for rs2279323

Help

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
Top▲ Help

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d