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dbSNP Short Genetic Variations

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.

rs37022

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:1415514 (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
A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.279727 (74041/264690, TOPMED)
T=0.269944 (37811/140070, GnomAD)
T=0.36168 (28459/78686, PAGE_STUDY) (+ 18 more)
T=0.49002 (13847/28258, 14KJPN)
T=0.22726 (4293/18890, ALFA)
T=0.48407 (8113/16760, 8.3KJPN)
T=0.3507 (2246/6404, 1000G_30x)
T=0.3556 (1781/5008, 1000G)
T=0.2000 (896/4480, Estonian)
T=0.1650 (636/3854, ALSPAC)
T=0.1731 (642/3708, TWINSUK)
T=0.4904 (1437/2930, KOREAN)
T=0.160 (160/998, GoNL)
T=0.491 (387/788, PRJEB37584)
T=0.225 (135/600, NorthernSweden)
T=0.366 (120/328, HapMap)
A=0.365 (103/282, SGDP_PRJ)
T=0.259 (56/216, Qatari)
A=0.481 (104/216, Vietnamese)
T=0.25 (10/40, GENOME_DK)
A=0.35 (9/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC6A3 : Intron Variant
Publications
12 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 A=0.77274 T=0.22726
European Sub 14286 A=0.81821 T=0.18179
African Sub 2946 A=0.5906 T=0.4094
African Others Sub 114 A=0.518 T=0.482
African American Sub 2832 A=0.5936 T=0.4064
Asian Sub 112 A=0.536 T=0.464
East Asian Sub 86 A=0.58 T=0.42
Other Asian Sub 26 A=0.38 T=0.62
Latin American 1 Sub 146 A=0.726 T=0.274
Latin American 2 Sub 610 A=0.679 T=0.321
South Asian Sub 98 A=0.77 T=0.23
Other Sub 692 A=0.741 T=0.259


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 A=0.720273 T=0.279727
gnomAD - Genomes Global Study-wide 140070 A=0.730056 T=0.269944
gnomAD - Genomes European Sub 75900 A=0.81682 T=0.18318
gnomAD - Genomes African Sub 41930 A=0.59041 T=0.40959
gnomAD - Genomes American Sub 13640 A=0.71129 T=0.28871
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.7732 T=0.2268
gnomAD - Genomes East Asian Sub 3122 A=0.5183 T=0.4817
gnomAD - Genomes Other Sub 2154 A=0.7502 T=0.2498
The PAGE Study Global Study-wide 78686 A=0.63832 T=0.36168
The PAGE Study AfricanAmerican Sub 32510 A=0.60231 T=0.39769
The PAGE Study Mexican Sub 10810 A=0.69852 T=0.30148
The PAGE Study Asian Sub 8308 A=0.5124 T=0.4876
The PAGE Study PuertoRican Sub 7918 A=0.7458 T=0.2542
The PAGE Study NativeHawaiian Sub 4534 A=0.5483 T=0.4517
The PAGE Study Cuban Sub 4230 A=0.7631 T=0.2369
The PAGE Study Dominican Sub 3828 A=0.6954 T=0.3046
The PAGE Study CentralAmerican Sub 2450 A=0.6792 T=0.3208
The PAGE Study SouthAmerican Sub 1982 A=0.6746 T=0.3254
The PAGE Study NativeAmerican Sub 1260 A=0.7484 T=0.2516
The PAGE Study SouthAsian Sub 856 A=0.716 T=0.284
14KJPN JAPANESE Study-wide 28258 A=0.50998 T=0.49002
Allele Frequency Aggregator Total Global 18890 A=0.77274 T=0.22726
Allele Frequency Aggregator European Sub 14286 A=0.81821 T=0.18179
Allele Frequency Aggregator African Sub 2946 A=0.5906 T=0.4094
Allele Frequency Aggregator Other Sub 692 A=0.741 T=0.259
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.679 T=0.321
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.726 T=0.274
Allele Frequency Aggregator Asian Sub 112 A=0.536 T=0.464
Allele Frequency Aggregator South Asian Sub 98 A=0.77 T=0.23
8.3KJPN JAPANESE Study-wide 16760 A=0.51593 T=0.48407
1000Genomes_30x Global Study-wide 6404 A=0.6493 T=0.3507
1000Genomes_30x African Sub 1786 A=0.5493 T=0.4507
1000Genomes_30x Europe Sub 1266 A=0.7891 T=0.2109
1000Genomes_30x South Asian Sub 1202 A=0.7080 T=0.2920
1000Genomes_30x East Asian Sub 1170 A=0.5222 T=0.4778
1000Genomes_30x American Sub 980 A=0.731 T=0.269
1000Genomes Global Study-wide 5008 A=0.6444 T=0.3556
1000Genomes African Sub 1322 A=0.5461 T=0.4539
1000Genomes East Asian Sub 1008 A=0.5139 T=0.4861
1000Genomes Europe Sub 1006 A=0.7873 T=0.2127
1000Genomes South Asian Sub 978 A=0.703 T=0.297
1000Genomes American Sub 694 A=0.731 T=0.269
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8000 T=0.2000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8350 T=0.1650
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8269 T=0.1731
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5096 T=0.4904
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.840 T=0.160
CNV burdens in cranial meningiomas Global Study-wide 788 A=0.509 T=0.491
CNV burdens in cranial meningiomas CRM Sub 788 A=0.509 T=0.491
Northern Sweden ACPOP Study-wide 600 A=0.775 T=0.225
HapMap Global Study-wide 328 A=0.634 T=0.366
HapMap African Sub 120 A=0.558 T=0.442
HapMap American Sub 120 A=0.767 T=0.233
HapMap Asian Sub 88 A=0.56 T=0.44
SGDP_PRJ Global Study-wide 282 A=0.365 T=0.635
Qatari Global Study-wide 216 A=0.741 T=0.259
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.481 T=0.519
The Danish reference pan genome Danish Study-wide 40 A=0.75 T=0.25
Siberian Global Study-wide 26 A=0.35 T=0.65
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 5 NC_000005.10:g.1415514A>T
GRCh37.p13 chr 5 NC_000005.9:g.1415629A>T
SLC6A3 RefSeqGene NG_015885.1:g.34915T>A
GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1 NT_187547.1:g.95360A>T
Gene: SLC6A3, solute carrier family 6 member 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC6A3 transcript NM_001044.5:c.1031+584T>A 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 A= T
GRCh38.p14 chr 5 NC_000005.10:g.1415514= NC_000005.10:g.1415514A>T
GRCh37.p13 chr 5 NC_000005.9:g.1415629= NC_000005.9:g.1415629A>T
SLC6A3 RefSeqGene NG_015885.1:g.34915= NG_015885.1:g.34915T>A
GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1 NT_187547.1:g.95360A>T NT_187547.1:g.95360=
SLC6A3 transcript NM_001044.4:c.1031+584= NM_001044.4:c.1031+584T>A
SLC6A3 transcript NM_001044.5:c.1031+584= NM_001044.5:c.1031+584T>A
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#.

80 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss41130 May 08, 2000 (76)
2 SC_JCM ss621646 Jul 16, 2000 (80)
3 KWOK ss1166982 Oct 04, 2000 (86)
4 KWOK ss1572889 Oct 18, 2000 (87)
5 YUSUKE ss4942487 Aug 28, 2002 (108)
6 WI_SSAHASNP ss14660478 Dec 05, 2003 (119)
7 UCSDPSYCHGEN ss16333664 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss17838545 Feb 27, 2004 (120)
9 CSHL-HAPMAP ss20237849 Feb 27, 2004 (120)
10 EGP_SNPS ss35033753 May 24, 2005 (125)
11 ABI ss44636275 Mar 13, 2006 (126)
12 PERLEGEN ss46559534 Mar 13, 2006 (126)
13 HGSV ss82469350 Dec 14, 2007 (130)
14 BGI ss105900081 Feb 04, 2009 (130)
15 1000GENOMES ss111294762 Jan 25, 2009 (130)
16 ILLUMINA-UK ss116429119 Feb 14, 2009 (130)
17 GMI ss154912276 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss164029805 Jul 04, 2010 (132)
19 1000GENOMES ss221467330 Jul 14, 2010 (132)
20 1000GENOMES ss232792646 Jul 14, 2010 (132)
21 1000GENOMES ss239997294 Jul 15, 2010 (132)
22 BL ss253149967 May 09, 2011 (134)
23 GMI ss278133737 May 04, 2012 (137)
24 GMI ss285102999 Apr 25, 2013 (138)
25 PJP ss293340757 May 09, 2011 (134)
26 TISHKOFF ss558147135 Apr 25, 2013 (138)
27 SSMP ss651991079 Apr 25, 2013 (138)
28 EVA-GONL ss981165102 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1072325951 Aug 21, 2014 (142)
30 1000GENOMES ss1313604691 Aug 21, 2014 (142)
31 DDI ss1430216798 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1580976326 Apr 01, 2015 (144)
33 EVA_DECODE ss1590681073 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1612111162 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1655105195 Apr 01, 2015 (144)
36 HAMMER_LAB ss1802923359 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1924421399 Feb 12, 2016 (147)
38 ILLUMINA ss1958759687 Feb 12, 2016 (147)
39 GENOMED ss1969991240 Jul 19, 2016 (147)
40 JJLAB ss2022803944 Sep 14, 2016 (149)
41 USC_VALOUEV ss2150954042 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2270768050 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2625900415 Nov 08, 2017 (151)
44 GRF ss2706475378 Nov 08, 2017 (151)
45 ILLUMINA ss2711026619 Nov 08, 2017 (151)
46 GNOMAD ss2820332919 Nov 08, 2017 (151)
47 AFFY ss2985941901 Nov 08, 2017 (151)
48 SWEGEN ss2996315836 Nov 08, 2017 (151)
49 ILLUMINA ss3022458812 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3025184745 Nov 08, 2017 (151)
51 CSHL ss3346200732 Nov 08, 2017 (151)
52 ILLUMINA ss3652951165 Oct 12, 2018 (152)
53 EGCUT_WGS ss3664204653 Jul 13, 2019 (153)
54 EVA_DECODE ss3713954514 Jul 13, 2019 (153)
55 ILLUMINA ss3726206716 Jul 13, 2019 (153)
56 ACPOP ss3732017628 Jul 13, 2019 (153)
57 EVA ss3762967325 Jul 13, 2019 (153)
58 PAGE_CC ss3771181225 Jul 13, 2019 (153)
59 PACBIO ss3784999409 Jul 13, 2019 (153)
60 PACBIO ss3790419819 Jul 13, 2019 (153)
61 PACBIO ss3795296295 Jul 13, 2019 (153)
62 KHV_HUMAN_GENOMES ss3806136275 Jul 13, 2019 (153)
63 EVA ss3829052449 Apr 26, 2020 (154)
64 SGDP_PRJ ss3861044456 Apr 26, 2020 (154)
65 KRGDB ss3907481802 Apr 26, 2020 (154)
66 EVA ss3984541558 Apr 26, 2021 (155)
67 VINODS ss4024242968 Apr 26, 2021 (155)
68 TOPMED ss4647162333 Apr 26, 2021 (155)
69 TOMMO_GENOMICS ss5170049937 Apr 26, 2021 (155)
70 1000G_HIGH_COVERAGE ss5262612066 Oct 13, 2022 (156)
71 EVA ss5355165115 Oct 13, 2022 (156)
72 HUGCELL_USP ss5460984409 Oct 13, 2022 (156)
73 1000G_HIGH_COVERAGE ss5545531141 Oct 13, 2022 (156)
74 SANFORD_IMAGENETICS ss5637027602 Oct 13, 2022 (156)
75 TOMMO_GENOMICS ss5705631659 Oct 13, 2022 (156)
76 YY_MCH ss5805952155 Oct 13, 2022 (156)
77 EVA ss5834410568 Oct 13, 2022 (156)
78 EVA ss5854645381 Oct 13, 2022 (156)
79 EVA ss5892686253 Oct 13, 2022 (156)
80 EVA ss5965434966 Oct 13, 2022 (156)
81 1000Genomes NC_000005.9 - 1415629 Oct 12, 2018 (152)
82 1000Genomes_30x NC_000005.10 - 1415514 Oct 13, 2022 (156)
83 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 1415629 Oct 12, 2018 (152)
84 Genetic variation in the Estonian population NC_000005.9 - 1415629 Oct 12, 2018 (152)
85 The Danish reference pan genome NC_000005.9 - 1415629 Apr 26, 2020 (154)
86 gnomAD - Genomes NC_000005.10 - 1415514 Apr 26, 2021 (155)
87 Genome of the Netherlands Release 5 NC_000005.9 - 1415629 Apr 26, 2020 (154)
88 HapMap NC_000005.10 - 1415514 Apr 26, 2020 (154)
89 KOREAN population from KRGDB NC_000005.9 - 1415629 Apr 26, 2020 (154)
90 Northern Sweden NC_000005.9 - 1415629 Jul 13, 2019 (153)
91 The PAGE Study NC_000005.10 - 1415514 Jul 13, 2019 (153)
92 CNV burdens in cranial meningiomas NC_000005.9 - 1415629 Apr 26, 2021 (155)
93 Qatari NC_000005.9 - 1415629 Apr 26, 2020 (154)
94 SGDP_PRJ NC_000005.9 - 1415629 Apr 26, 2020 (154)
95 Siberian NC_000005.9 - 1415629 Apr 26, 2020 (154)
96 8.3KJPN NC_000005.9 - 1415629 Apr 26, 2021 (155)
97 14KJPN NC_000005.10 - 1415514 Oct 13, 2022 (156)
98 TopMed NC_000005.10 - 1415514 Apr 26, 2021 (155)
99 UK 10K study - Twins NC_000005.9 - 1415629 Oct 12, 2018 (152)
100 A Vietnamese Genetic Variation Database NC_000005.9 - 1415629 Jul 13, 2019 (153)
101 ALFA NC_000005.10 - 1415514 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).

Associated ID History Updated (Build)
rs3756455 Oct 08, 2002 (108)
rs57977708 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82469350, ss111294762, ss116429119, ss164029805, ss253149967, ss278133737, ss285102999, ss293340757, ss1590681073 NC_000005.8:1468628:A:T NC_000005.10:1415513:A:T (self)
25149150, 13986851, 9942901, 7141265, 6208574, 14659196, 5302493, 90922, 6463329, 13061436, 3470396, 28019244, 13986851, 3100920, ss221467330, ss232792646, ss239997294, ss558147135, ss651991079, ss981165102, ss1072325951, ss1313604691, ss1430216798, ss1580976326, ss1612111162, ss1655105195, ss1802923359, ss1924421399, ss1958759687, ss1969991240, ss2022803944, ss2150954042, ss2625900415, ss2706475378, ss2711026619, ss2820332919, ss2985941901, ss2996315836, ss3022458812, ss3346200732, ss3652951165, ss3664204653, ss3732017628, ss3762967325, ss3784999409, ss3790419819, ss3795296295, ss3829052449, ss3861044456, ss3907481802, ss3984541558, ss5170049937, ss5355165115, ss5637027602, ss5834410568, ss5965434966 NC_000005.9:1415628:A:T NC_000005.10:1415513:A:T (self)
33057076, 177861141, 2790110, 402694, 39468763, 484539890, 3195924764, ss2270768050, ss3025184745, ss3713954514, ss3726206716, ss3771181225, ss3806136275, ss4647162333, ss5262612066, ss5460984409, ss5545531141, ss5705631659, ss5805952155, ss5854645381, ss5892686253 NC_000005.10:1415513:A:T NC_000005.10:1415513:A:T (self)
ss41130, ss621646, ss1166982, ss1572889, ss4942487, ss16333664, ss35033753, ss44636275, ss46559534, ss105900081, ss154912276 NT_006576.16:1405628:A:T NC_000005.10:1415513:A:T (self)
ss14660478, ss17838545, ss20237849 NT_023089.13:1398366:A:T NC_000005.10:1415513:A:T (self)
ss4024242968 NT_187547.1:95359:A:A NC_000005.10:1415513:A:T (self)
Help

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

12 citations for rs37022
PMID Title Author Year Journal
17526637 D2 dopamine receptor gene haplotypes and their influence on alcohol and tobacco consumption magnitude in alcohol-dependent individuals. Preuss UW et al. 2007 Alcohol and alcoholism (Oxford, Oxfordshire)
18444252 Neurotransmission and bipolar disorder: a systematic family-based association study. Shi J et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
18821566 SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. Kollins SH et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
19673036 Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population. Pal P et al. 2009 Croatian medical journal
19693267 Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. Roe BE et al. 2009 PloS one
20091113 Polymorphisms in dopamine transporter (SLC6A3) are associated with stimulant effects of D-amphetamine: an exploratory pharmacogenetic study using healthy volunteers. Hamidovic A et al. 2010 Behavior genetics
21525861 Dopamine transporter gene variant affecting expression in human brain is associated with bipolar disorder. Pinsonneault JK et al. 2011 Neuropsychopharmacology
22832519 A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome. Acosta MT et al. 2011 Translational psychiatry
26890918 Attention Deficit/Hyperactivity Disorder and Urinary Nonylphenol Levels: A Case-Control Study in Taiwanese Children. Yu CJ et al. 2016 PloS one
27384573 Sugar-Sweetened Beverage Consumption Is Adversely Associated with Childhood Attention Deficit/Hyperactivity Disorder. Yu CJ et al. 2016 International journal of environmental research and public health
27720787 Associations Between Neurotransmitter Genes and Fatigue and Energy Levels in Women After Breast Cancer Surgery. Eshragh J et al. 2017 Journal of pain and symptom management
31440993 A Meta-analysis of the Association Between SLC6A3 Gene Polymorphisms and Schizophrenia. Xu FL et al. 2020 Journal of molecular neuroscience
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.post761+d5e8e07