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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.

rs8074028

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:30134669 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.492028 (130235/264690, TOPMED)
C=0.491798 (68832/139960, GnomAD)
T=0.17783 (5025/28258, 14KJPN) (+ 18 more)
C=0.47663 (11606/24350, ALFA)
T=0.17524 (2937/16760, 8.3KJPN)
T=0.4243 (2717/6404, 1000G_30x)
T=0.4177 (2092/5008, 1000G)
C=0.4607 (2064/4480, Estonian)
C=0.4639 (1788/3854, ALSPAC)
C=0.4482 (1662/3708, TWINSUK)
T=0.1976 (579/2930, KOREAN)
T=0.3868 (731/1890, HapMap)
T=0.2020 (370/1832, Korea1K)
C=0.449 (448/998, GoNL)
T=0.490 (294/600, NorthernSweden)
T=0.267 (118/442, SGDP_PRJ)
C=0.472 (102/216, Qatari)
T=0.222 (47/212, Vietnamese)
T=0.30 (13/44, Siberian)
C=0.38 (15/40, GENOME_DK)
C=0.40 (16/40, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NSRP1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 24350 T=0.52337 C=0.47663
European Sub 18126 T=0.53823 C=0.46177
African Sub 4114 T=0.4886 C=0.5114
African Others Sub 148 T=0.527 C=0.473
African American Sub 3966 T=0.4871 C=0.5129
Asian Sub 124 T=0.218 C=0.782
East Asian Sub 96 T=0.22 C=0.78
Other Asian Sub 28 T=0.21 C=0.79
Latin American 1 Sub 168 T=0.482 C=0.518
Latin American 2 Sub 670 T=0.439 C=0.561
South Asian Sub 98 T=0.46 C=0.54
Other Sub 1050 T=0.5057 C=0.4943


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 T=0.492028 C=0.507972
gnomAD - Genomes Global Study-wide 139960 T=0.508202 C=0.491798
gnomAD - Genomes European Sub 75814 T=0.54676 C=0.45324
gnomAD - Genomes African Sub 41914 T=0.48466 C=0.51534
gnomAD - Genomes American Sub 13644 T=0.45910 C=0.54090
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.4391 C=0.5609
gnomAD - Genomes East Asian Sub 3122 T=0.1896 C=0.8104
gnomAD - Genomes Other Sub 2148 T=0.4884 C=0.5116
14KJPN JAPANESE Study-wide 28258 T=0.17783 C=0.82217
Allele Frequency Aggregator Total Global 24350 T=0.52337 C=0.47663
Allele Frequency Aggregator European Sub 18126 T=0.53823 C=0.46177
Allele Frequency Aggregator African Sub 4114 T=0.4886 C=0.5114
Allele Frequency Aggregator Other Sub 1050 T=0.5057 C=0.4943
Allele Frequency Aggregator Latin American 2 Sub 670 T=0.439 C=0.561
Allele Frequency Aggregator Latin American 1 Sub 168 T=0.482 C=0.518
Allele Frequency Aggregator Asian Sub 124 T=0.218 C=0.782
Allele Frequency Aggregator South Asian Sub 98 T=0.46 C=0.54
8.3KJPN JAPANESE Study-wide 16760 T=0.17524 C=0.82476
1000Genomes_30x Global Study-wide 6404 T=0.4243 C=0.5757
1000Genomes_30x African Sub 1786 T=0.4630 C=0.5370
1000Genomes_30x Europe Sub 1266 T=0.5671 C=0.4329
1000Genomes_30x South Asian Sub 1202 T=0.4418 C=0.5582
1000Genomes_30x East Asian Sub 1170 T=0.1803 C=0.8197
1000Genomes_30x American Sub 980 T=0.439 C=0.561
1000Genomes Global Study-wide 5008 T=0.4177 C=0.5823
1000Genomes African Sub 1322 T=0.4629 C=0.5371
1000Genomes East Asian Sub 1008 T=0.1776 C=0.8224
1000Genomes Europe Sub 1006 T=0.5557 C=0.4443
1000Genomes South Asian Sub 978 T=0.448 C=0.552
1000Genomes American Sub 694 T=0.438 C=0.562
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5393 C=0.4607
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5361 C=0.4639
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5518 C=0.4482
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.1976 A=0.0000, C=0.8024, G=0.0000
HapMap Global Study-wide 1890 T=0.3868 C=0.6132
HapMap American Sub 768 T=0.413 C=0.587
HapMap African Sub 692 T=0.425 C=0.575
HapMap Asian Sub 254 T=0.161 C=0.839
HapMap Europe Sub 176 T=0.449 C=0.551
Korean Genome Project KOREAN Study-wide 1832 T=0.2020 C=0.7980
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.551 C=0.449
Northern Sweden ACPOP Study-wide 600 T=0.490 C=0.510
SGDP_PRJ Global Study-wide 442 T=0.267 C=0.733
Qatari Global Study-wide 216 T=0.528 C=0.472
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.222 C=0.778
Siberian Global Study-wide 44 T=0.30 C=0.70
The Danish reference pan genome Danish Study-wide 40 T=0.62 C=0.38
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 40 T=0.60 C=0.40
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 17 NC_000017.11:g.30134669T>A
GRCh38.p14 chr 17 NC_000017.11:g.30134669T>C
GRCh38.p14 chr 17 NC_000017.11:g.30134669T>G
GRCh37.p13 chr 17 NC_000017.10:g.28461687T>A
GRCh37.p13 chr 17 NC_000017.10:g.28461687T>C
GRCh37.p13 chr 17 NC_000017.10:g.28461687T>G
Gene: NSRP1, nuclear speckle splicing regulatory protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NSRP1 transcript variant 2 NM_001261467.2:c.-49+1780…

NM_001261467.2:c.-49+17806T>A

N/A Intron Variant
NSRP1 transcript variant 1 NM_032141.4:c.114+16496T>A N/A Intron Variant
NSRP1 transcript variant X4 XM_011525345.3:c.51+17337…

XM_011525345.3:c.51+17337T>A

N/A Intron Variant
NSRP1 transcript variant X1 XM_047436916.1:c.155+1649…

XM_047436916.1:c.155+16496T>A

N/A Intron Variant
NSRP1 transcript variant X2 XM_047436917.1:c.92+16496…

XM_047436917.1:c.92+16496T>A

N/A Intron Variant
NSRP1 transcript variant X3 XM_047436918.1:c.92+16496…

XM_047436918.1:c.92+16496T>A

N/A Intron Variant
NSRP1 transcript variant X5 XM_047436919.1:c. N/A Genic Upstream Transcript Variant
NSRP1 transcript variant X6 XM_047436920.1:c. N/A Genic Upstream Transcript Variant
NSRP1 transcript variant X7 XM_047436921.1:c. N/A Genic Upstream Transcript 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 T= A C G
GRCh38.p14 chr 17 NC_000017.11:g.30134669= NC_000017.11:g.30134669T>A NC_000017.11:g.30134669T>C NC_000017.11:g.30134669T>G
GRCh37.p13 chr 17 NC_000017.10:g.28461687= NC_000017.10:g.28461687T>A NC_000017.10:g.28461687T>C NC_000017.10:g.28461687T>G
NSRP1 transcript variant 2 NM_001261467.1:c.-49+17806= NM_001261467.1:c.-49+17806T>A NM_001261467.1:c.-49+17806T>C NM_001261467.1:c.-49+17806T>G
NSRP1 transcript variant 2 NM_001261467.2:c.-49+17806= NM_001261467.2:c.-49+17806T>A NM_001261467.2:c.-49+17806T>C NM_001261467.2:c.-49+17806T>G
NSRP1 transcript variant 1 NM_032141.3:c.114+16496= NM_032141.3:c.114+16496T>A NM_032141.3:c.114+16496T>C NM_032141.3:c.114+16496T>G
NSRP1 transcript variant 1 NM_032141.4:c.114+16496= NM_032141.4:c.114+16496T>A NM_032141.4:c.114+16496T>C NM_032141.4:c.114+16496T>G
NSRP1 transcript variant X1 XM_005258042.1:c.109+16501= XM_005258042.1:c.109+16501T>A XM_005258042.1:c.109+16501T>C XM_005258042.1:c.109+16501T>G
NSRP1 transcript variant X4 XM_011525345.3:c.51+17337= XM_011525345.3:c.51+17337T>A XM_011525345.3:c.51+17337T>C XM_011525345.3:c.51+17337T>G
NSRP1 transcript variant X1 XM_047436916.1:c.155+16496= XM_047436916.1:c.155+16496T>A XM_047436916.1:c.155+16496T>C XM_047436916.1:c.155+16496T>G
NSRP1 transcript variant X2 XM_047436917.1:c.92+16496= XM_047436917.1:c.92+16496T>A XM_047436917.1:c.92+16496T>C XM_047436917.1:c.92+16496T>G
NSRP1 transcript variant X3 XM_047436918.1:c.92+16496= XM_047436918.1:c.92+16496T>A XM_047436918.1:c.92+16496T>C XM_047436918.1:c.92+16496T>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, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12401346 Jul 11, 2003 (116)
2 BCM_SSAHASNP ss14294291 Dec 05, 2003 (119)
3 PERLEGEN ss23664426 Sep 20, 2004 (123)
4 ILLUMINA ss75199546 Dec 07, 2007 (129)
5 HGSV ss78031782 Dec 07, 2007 (129)
6 HGSV ss84155600 Dec 15, 2007 (130)
7 BCMHGSC_JDW ss90566748 Mar 24, 2008 (129)
8 BGI ss106503146 Feb 06, 2009 (130)
9 1000GENOMES ss109712839 Jan 24, 2009 (130)
10 1000GENOMES ss113432472 Jan 25, 2009 (130)
11 ILLUMINA-UK ss118031335 Feb 14, 2009 (130)
12 KRIBB_YJKIM ss119583090 Dec 01, 2009 (131)
13 ENSEMBL ss137036307 Dec 01, 2009 (131)
14 GMI ss157961138 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss168003040 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss169385475 Jul 04, 2010 (132)
17 ILLUMINA ss174705704 Jul 04, 2010 (132)
18 BUSHMAN ss202370423 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss208004373 Jul 04, 2010 (132)
20 1000GENOMES ss227511035 Jul 14, 2010 (132)
21 1000GENOMES ss237217348 Jul 15, 2010 (132)
22 1000GENOMES ss243521613 Jul 15, 2010 (132)
23 GMI ss282738583 May 04, 2012 (137)
24 GMI ss287168544 Apr 25, 2013 (138)
25 PJP ss292036270 May 09, 2011 (134)
26 ILLUMINA ss537552340 Sep 08, 2015 (146)
27 TISHKOFF ss565225570 Apr 25, 2013 (138)
28 SSMP ss661024935 Apr 25, 2013 (138)
29 EVA-GONL ss993025377 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1081003229 Aug 21, 2014 (142)
31 1000GENOMES ss1358323115 Aug 21, 2014 (142)
32 DDI ss1428012930 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1578126867 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1635486533 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1678480566 Apr 01, 2015 (144)
36 EVA_DECODE ss1697066585 Apr 01, 2015 (144)
37 EVA_SVP ss1713576766 Apr 01, 2015 (144)
38 HAMMER_LAB ss1808748110 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1936482770 Feb 12, 2016 (147)
40 JJLAB ss2029022173 Sep 14, 2016 (149)
41 USC_VALOUEV ss2157486051 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2216213069 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2629006858 Nov 08, 2017 (151)
44 GRF ss2702045582 Nov 08, 2017 (151)
45 GNOMAD ss2948892872 Nov 08, 2017 (151)
46 SWEGEN ss3015395650 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3028331531 Nov 08, 2017 (151)
48 CSHL ss3351709567 Nov 08, 2017 (151)
49 ILLUMINA ss3627649446 Oct 12, 2018 (152)
50 ILLUMINA ss3638155764 Oct 12, 2018 (152)
51 ILLUMINA ss3643134691 Oct 12, 2018 (152)
52 EGCUT_WGS ss3682300405 Jul 13, 2019 (153)
53 EVA_DECODE ss3700302494 Jul 13, 2019 (153)
54 ACPOP ss3741958031 Jul 13, 2019 (153)
55 EVA ss3754571275 Jul 13, 2019 (153)
56 PACBIO ss3788180708 Jul 13, 2019 (153)
57 PACBIO ss3793142932 Jul 13, 2019 (153)
58 PACBIO ss3798028851 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3819847999 Jul 13, 2019 (153)
60 EVA ss3834827952 Apr 27, 2020 (154)
61 EVA ss3841024015 Apr 27, 2020 (154)
62 EVA ss3846520858 Apr 27, 2020 (154)
63 SGDP_PRJ ss3885572857 Apr 27, 2020 (154)
64 KRGDB ss3935225650 Apr 27, 2020 (154)
65 KOGIC ss3978705766 Apr 27, 2020 (154)
66 EVA ss3985786542 Apr 27, 2021 (155)
67 EVA ss4017762174 Apr 27, 2021 (155)
68 TOPMED ss5033095318 Apr 27, 2021 (155)
69 TOMMO_GENOMICS ss5222013570 Apr 27, 2021 (155)
70 1000G_HIGH_COVERAGE ss5302834268 Oct 17, 2022 (156)
71 EVA ss5427064901 Oct 17, 2022 (156)
72 HUGCELL_USP ss5495932470 Oct 17, 2022 (156)
73 EVA ss5511747091 Oct 17, 2022 (156)
74 1000G_HIGH_COVERAGE ss5606412036 Oct 17, 2022 (156)
75 SANFORD_IMAGENETICS ss5659937538 Oct 17, 2022 (156)
76 TOMMO_GENOMICS ss5778094137 Oct 17, 2022 (156)
77 YY_MCH ss5816474456 Oct 17, 2022 (156)
78 EVA ss5833870638 Oct 17, 2022 (156)
79 EVA ss5851778383 Oct 17, 2022 (156)
80 EVA ss5913635529 Oct 17, 2022 (156)
81 EVA ss5951334450 Oct 17, 2022 (156)
82 1000Genomes NC_000017.10 - 28461687 Oct 12, 2018 (152)
83 1000Genomes_30x NC_000017.11 - 30134669 Oct 17, 2022 (156)
84 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 28461687 Oct 12, 2018 (152)
85 Genetic variation in the Estonian population NC_000017.10 - 28461687 Oct 12, 2018 (152)
86 The Danish reference pan genome NC_000017.10 - 28461687 Apr 27, 2020 (154)
87 gnomAD - Genomes NC_000017.11 - 30134669 Apr 27, 2021 (155)
88 Genome of the Netherlands Release 5 NC_000017.10 - 28461687 Apr 27, 2020 (154)
89 HapMap NC_000017.11 - 30134669 Apr 27, 2020 (154)
90 KOREAN population from KRGDB NC_000017.10 - 28461687 Apr 27, 2020 (154)
91 Korean Genome Project NC_000017.11 - 30134669 Apr 27, 2020 (154)
92 Northern Sweden NC_000017.10 - 28461687 Jul 13, 2019 (153)
93 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000017.10 - 28461687 Apr 27, 2021 (155)
94 Qatari NC_000017.10 - 28461687 Apr 27, 2020 (154)
95 SGDP_PRJ NC_000017.10 - 28461687 Apr 27, 2020 (154)
96 Siberian NC_000017.10 - 28461687 Apr 27, 2020 (154)
97 8.3KJPN NC_000017.10 - 28461687 Apr 27, 2021 (155)
98 14KJPN NC_000017.11 - 30134669 Oct 17, 2022 (156)
99 TopMed NC_000017.11 - 30134669 Apr 27, 2021 (155)
100 UK 10K study - Twins NC_000017.10 - 28461687 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000017.10 - 28461687 Jul 13, 2019 (153)
102 ALFA NC_000017.11 - 30134669 Apr 27, 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)
rs16965552 Oct 08, 2004 (123)
rs60137501 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
42403044, ss3935225650 NC_000017.10:28461686:T:A NC_000017.11:30134668:T:A (self)
ss78031782, ss84155600, ss90566748, ss109712839, ss113432472, ss118031335, ss168003040, ss169385475, ss202370423, ss208004373, ss282738583, ss287168544, ss292036270, ss1697066585, ss1713576766, ss3643134691 NC_000017.9:25485812:T:C NC_000017.11:30134668:T:C (self)
71552715, 39664369, 28038653, 4330354, 17681367, 42403044, 15242896, 1012469, 18524692, 37589837, 10002405, 79982877, 39664369, 8782421, ss227511035, ss237217348, ss243521613, ss537552340, ss565225570, ss661024935, ss993025377, ss1081003229, ss1358323115, ss1428012930, ss1578126867, ss1635486533, ss1678480566, ss1808748110, ss1936482770, ss2029022173, ss2157486051, ss2629006858, ss2702045582, ss2948892872, ss3015395650, ss3351709567, ss3627649446, ss3638155764, ss3682300405, ss3741958031, ss3754571275, ss3788180708, ss3793142932, ss3798028851, ss3834827952, ss3841024015, ss3885572857, ss3935225650, ss3985786542, ss4017762174, ss5222013570, ss5427064901, ss5511747091, ss5659937538, ss5833870638, ss5951334450 NC_000017.10:28461686:T:C NC_000017.11:30134668:T:C (self)
93937971, 504780945, 1474584, 35083767, 111931241, 248640980, 13807756919, ss2216213069, ss3028331531, ss3700302494, ss3819847999, ss3846520858, ss3978705766, ss5033095318, ss5302834268, ss5495932470, ss5606412036, ss5778094137, ss5816474456, ss5851778383, ss5913635529 NC_000017.11:30134668:T:C NC_000017.11:30134668:T:C (self)
ss12401346 NT_010799.13:3198679:T:C NC_000017.11:30134668:T:C (self)
ss14294291 NT_010799.14:3198679:T:C NC_000017.11:30134668:T:C (self)
ss23664426, ss75199546, ss106503146, ss119583090, ss137036307, ss157961138, ss174705704 NT_010799.15:3198680:T:C NC_000017.11:30134668:T:C (self)
42403044, ss3935225650 NC_000017.10:28461686:T:G NC_000017.11:30134668:T:G (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 rs8074028

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