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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.

rs73825734

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:76067135 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.075076 (10528/140232, GnomAD)
A=0.13532 (3824/28258, 14KJPN)
A=0.01981 (425/21456, ALFA) (+ 13 more)
A=0.13532 (2268/16760, 8.3KJPN)
A=0.1071 (686/6404, 1000G_30x)
A=0.1086 (544/5008, 1000G)
A=0.0453 (203/4480, Estonian)
A=0.0426 (164/3854, ALSPAC)
A=0.0399 (148/3708, TWINSUK)
A=0.1194 (349/2922, KOREAN)
A=0.038 (38/998, GoNL)
A=0.035 (21/600, NorthernSweden)
A=0.111 (24/216, Qatari)
A=0.090 (19/212, Vietnamese)
G=0.402 (49/122, SGDP_PRJ)
G=0.43 (6/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ART3 : 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 21456 G=0.98019 A=0.01981, T=0.00000
European Sub 17740 G=0.97723 A=0.02277, T=0.00000
African Sub 2288 G=0.9983 A=0.0017, T=0.0000
African Others Sub 88 G=1.00 A=0.00, T=0.00
African American Sub 2200 G=0.9982 A=0.0018, T=0.0000
Asian Sub 82 G=1.00 A=0.00, T=0.00
East Asian Sub 62 G=1.00 A=0.00, T=0.00
Other Asian Sub 20 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 126 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 498 G=1.000 A=0.000, T=0.000
South Asian Sub 72 G=1.00 A=0.00, T=0.00
Other Sub 650 G=0.974 A=0.026, T=0.000


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
gnomAD - Genomes Global Study-wide 140232 G=0.924924 A=0.075076
gnomAD - Genomes European Sub 75956 G=0.95542 A=0.04458
gnomAD - Genomes African Sub 42004 G=0.87530 A=0.12470
gnomAD - Genomes American Sub 13664 G=0.90962 A=0.09038
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9401 A=0.0599
gnomAD - Genomes East Asian Sub 3132 G=0.9157 A=0.0843
gnomAD - Genomes Other Sub 2152 G=0.9043 A=0.0957
14KJPN JAPANESE Study-wide 28258 G=0.86468 A=0.13532
Allele Frequency Aggregator Total Global 21456 G=0.98019 A=0.01981, T=0.00000
Allele Frequency Aggregator European Sub 17740 G=0.97723 A=0.02277, T=0.00000
Allele Frequency Aggregator African Sub 2288 G=0.9983 A=0.0017, T=0.0000
Allele Frequency Aggregator Other Sub 650 G=0.974 A=0.026, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 498 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 126 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 82 G=1.00 A=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 72 G=1.00 A=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.86468 A=0.13532
1000Genomes_30x Global Study-wide 6404 G=0.8929 A=0.1071
1000Genomes_30x African Sub 1786 G=0.8578 A=0.1422
1000Genomes_30x Europe Sub 1266 G=0.9645 A=0.0355
1000Genomes_30x South Asian Sub 1202 G=0.8511 A=0.1489
1000Genomes_30x East Asian Sub 1170 G=0.9026 A=0.0974
1000Genomes_30x American Sub 980 G=0.904 A=0.096
1000Genomes Global Study-wide 5008 G=0.8914 A=0.1086
1000Genomes African Sub 1322 G=0.8563 A=0.1437
1000Genomes East Asian Sub 1008 G=0.8978 A=0.1022
1000Genomes Europe Sub 1006 G=0.9662 A=0.0338
1000Genomes South Asian Sub 978 G=0.850 A=0.150
1000Genomes American Sub 694 G=0.899 A=0.101
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9547 A=0.0453
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9574 A=0.0426
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9601 A=0.0399
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8806 A=0.1194, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.962 A=0.038
Northern Sweden ACPOP Study-wide 600 G=0.965 A=0.035
Qatari Global Study-wide 216 G=0.889 A=0.111
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.910 A=0.090
SGDP_PRJ Global Study-wide 122 G=0.402 A=0.598
Siberian Global Study-wide 14 G=0.43 A=0.57
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 4 NC_000004.12:g.76067135G>A
GRCh38.p14 chr 4 NC_000004.12:g.76067135G>T
GRCh37.p13 chr 4 NC_000004.11:g.76988288G>A
GRCh37.p13 chr 4 NC_000004.11:g.76988288G>T
Gene: ART3, ADP-ribosyltransferase 3 (inactive) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ART3 transcript variant 3 NM_001130017.3:c.-9-8746G…

NM_001130017.3:c.-9-8746G>A

N/A Intron Variant
ART3 transcript variant 8 NM_001377177.1:c.-9-8746G…

NM_001377177.1:c.-9-8746G>A

N/A Intron Variant
ART3 transcript variant 12 NM_001377181.1:c.-9-8746G…

NM_001377181.1:c.-9-8746G>A

N/A Intron Variant
ART3 transcript variant 14 NM_001377183.1:c.-9-8746G…

NM_001377183.1:c.-9-8746G>A

N/A Intron Variant
ART3 transcript variant 1 NM_001130016.3:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 2 NM_001179.6:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 4 NM_001377173.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 5 NM_001377174.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 6 NM_001377175.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 7 NM_001377176.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 9 NM_001377178.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 10 NM_001377179.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 11 NM_001377180.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 13 NM_001377182.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 15 NM_001377184.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant 16 NM_001377185.1:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant X3 XM_017008206.3:c.-10+8510…

XM_017008206.3:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X1 XM_024454051.2:c.-9-8746G…

XM_024454051.2:c.-9-8746G>A

N/A Intron Variant
ART3 transcript variant X2 XM_024454052.2:c.-10+8510…

XM_024454052.2:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X5 XM_024454053.2:c.-10+8510…

XM_024454053.2:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X18 XM_024454063.2:c.-9-8746G…

XM_024454063.2:c.-9-8746G>A

N/A Intron Variant
ART3 transcript variant X8 XM_047415695.1:c.-10+8510…

XM_047415695.1:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X11 XM_047415696.1:c.-10+8510…

XM_047415696.1:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X12 XM_047415697.1:c.-10+8510…

XM_047415697.1:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X13 XM_047415698.1:c.-10+8510…

XM_047415698.1:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X16 XM_047415699.1:c.-10+8510…

XM_047415699.1:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X17 XM_047415700.1:c.-10+8510…

XM_047415700.1:c.-10+8510G>A

N/A Intron Variant
ART3 transcript variant X4 XM_024454050.2:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant X6 XM_024454054.2:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant X7 XM_024454056.2:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant X9 XM_024454058.2:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant X10 XM_024454059.2:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant X14 XM_024454061.2:c. N/A Genic Upstream Transcript Variant
ART3 transcript variant X15 XM_024454062.2: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 G= A T
GRCh38.p14 chr 4 NC_000004.12:g.76067135= NC_000004.12:g.76067135G>A NC_000004.12:g.76067135G>T
GRCh37.p13 chr 4 NC_000004.11:g.76988288= NC_000004.11:g.76988288G>A NC_000004.11:g.76988288G>T
ART3 transcript variant 3 NM_001130017.2:c.-9-8746= NM_001130017.2:c.-9-8746G>A NM_001130017.2:c.-9-8746G>T
ART3 transcript variant 3 NM_001130017.3:c.-9-8746= NM_001130017.3:c.-9-8746G>A NM_001130017.3:c.-9-8746G>T
ART3 transcript variant 8 NM_001377177.1:c.-9-8746= NM_001377177.1:c.-9-8746G>A NM_001377177.1:c.-9-8746G>T
ART3 transcript variant 12 NM_001377181.1:c.-9-8746= NM_001377181.1:c.-9-8746G>A NM_001377181.1:c.-9-8746G>T
ART3 transcript variant 14 NM_001377183.1:c.-9-8746= NM_001377183.1:c.-9-8746G>A NM_001377183.1:c.-9-8746G>T
ART3 transcript variant X3 XM_017008206.3:c.-10+8510= XM_017008206.3:c.-10+8510G>A XM_017008206.3:c.-10+8510G>T
ART3 transcript variant X1 XM_024454051.2:c.-9-8746= XM_024454051.2:c.-9-8746G>A XM_024454051.2:c.-9-8746G>T
ART3 transcript variant X2 XM_024454052.2:c.-10+8510= XM_024454052.2:c.-10+8510G>A XM_024454052.2:c.-10+8510G>T
ART3 transcript variant X5 XM_024454053.2:c.-10+8510= XM_024454053.2:c.-10+8510G>A XM_024454053.2:c.-10+8510G>T
ART3 transcript variant X18 XM_024454063.2:c.-9-8746= XM_024454063.2:c.-9-8746G>A XM_024454063.2:c.-9-8746G>T
ART3 transcript variant X8 XM_047415695.1:c.-10+8510= XM_047415695.1:c.-10+8510G>A XM_047415695.1:c.-10+8510G>T
ART3 transcript variant X11 XM_047415696.1:c.-10+8510= XM_047415696.1:c.-10+8510G>A XM_047415696.1:c.-10+8510G>T
ART3 transcript variant X12 XM_047415697.1:c.-10+8510= XM_047415697.1:c.-10+8510G>A XM_047415697.1:c.-10+8510G>T
ART3 transcript variant X13 XM_047415698.1:c.-10+8510= XM_047415698.1:c.-10+8510G>A XM_047415698.1:c.-10+8510G>T
ART3 transcript variant X16 XM_047415699.1:c.-10+8510= XM_047415699.1:c.-10+8510G>A XM_047415699.1:c.-10+8510G>T
ART3 transcript variant X17 XM_047415700.1:c.-10+8510= XM_047415700.1:c.-10+8510G>A XM_047415700.1:c.-10+8510G>T
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#.

53 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 BGI ss104083973 Dec 01, 2009 (131)
2 ILLUMINA-UK ss117053479 Feb 14, 2009 (130)
3 COMPLETE_GENOMICS ss162253230 Jul 04, 2010 (132)
4 1000GENOMES ss221008709 Jul 14, 2010 (132)
5 1000GENOMES ss232452165 Jul 14, 2010 (132)
6 1000GENOMES ss239732724 Jul 15, 2010 (132)
7 GMI ss277783628 May 04, 2012 (137)
8 GMI ss284938570 Apr 25, 2013 (138)
9 ILLUMINA ss483159565 May 04, 2012 (137)
10 ILLUMINA ss484863037 May 04, 2012 (137)
11 TISHKOFF ss557612821 Apr 25, 2013 (138)
12 SSMP ss651422123 Apr 25, 2013 (138)
13 ILLUMINA ss782023098 Sep 08, 2015 (146)
14 EVA-GONL ss980274391 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1071658549 Aug 21, 2014 (142)
16 1000GENOMES ss1310339846 Aug 21, 2014 (142)
17 DDI ss1429931572 Apr 01, 2015 (144)
18 EVA_DECODE ss1589773624 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1610391684 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1653385717 Apr 01, 2015 (144)
21 WEILL_CORNELL_DGM ss1923516993 Feb 12, 2016 (147)
22 JJLAB ss2022344304 Sep 14, 2016 (149)
23 USC_VALOUEV ss2150472667 Dec 20, 2016 (150)
24 HUMAN_LONGEVITY ss2264076868 Dec 20, 2016 (150)
25 SYSTEMSBIOZJU ss2625672450 Nov 08, 2017 (151)
26 ILLUMINA ss2634136088 Nov 08, 2017 (151)
27 GRF ss2705946556 Nov 08, 2017 (151)
28 GNOMAD ss2811013397 Nov 08, 2017 (151)
29 SWEGEN ss2994946300 Nov 08, 2017 (151)
30 ILLUMINA ss3642343502 Oct 12, 2018 (152)
31 EGCUT_WGS ss3662829521 Jul 13, 2019 (153)
32 EVA_DECODE ss3712341563 Jul 13, 2019 (153)
33 ACPOP ss3731282267 Jul 13, 2019 (153)
34 EVA ss3761978533 Jul 13, 2019 (153)
35 KHV_HUMAN_GENOMES ss3805120001 Jul 13, 2019 (153)
36 SGDP_PRJ ss3859272142 Apr 26, 2020 (154)
37 KRGDB ss3905530428 Apr 26, 2020 (154)
38 TOPMED ss4618997908 Apr 26, 2021 (155)
39 TOPMED ss4618997909 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5166375492 Apr 26, 2021 (155)
41 1000G_HIGH_COVERAGE ss5259726989 Oct 17, 2022 (156)
42 EVA ss5314967455 Oct 17, 2022 (156)
43 EVA ss5349953598 Oct 17, 2022 (156)
44 HUGCELL_USP ss5458428032 Oct 17, 2022 (156)
45 EVA ss5507576035 Oct 17, 2022 (156)
46 1000G_HIGH_COVERAGE ss5541093914 Oct 17, 2022 (156)
47 SANFORD_IMAGENETICS ss5635340257 Oct 17, 2022 (156)
48 TOMMO_GENOMICS ss5700905469 Oct 17, 2022 (156)
49 YY_MCH ss5805217510 Oct 17, 2022 (156)
50 EVA ss5844200613 Oct 17, 2022 (156)
51 EVA ss5854289775 Oct 17, 2022 (156)
52 EVA ss5864036897 Oct 17, 2022 (156)
53 EVA ss5963717705 Oct 17, 2022 (156)
54 1000Genomes NC_000004.11 - 76988288 Oct 12, 2018 (152)
55 1000Genomes_30x NC_000004.12 - 76067135 Oct 17, 2022 (156)
56 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 76988288 Oct 12, 2018 (152)
57 Genetic variation in the Estonian population NC_000004.11 - 76988288 Oct 12, 2018 (152)
58 gnomAD - Genomes NC_000004.12 - 76067135 Apr 26, 2021 (155)
59 Genome of the Netherlands Release 5 NC_000004.11 - 76988288 Apr 26, 2020 (154)
60 KOREAN population from KRGDB NC_000004.11 - 76988288 Apr 26, 2020 (154)
61 Northern Sweden NC_000004.11 - 76988288 Jul 13, 2019 (153)
62 Qatari NC_000004.11 - 76988288 Apr 26, 2020 (154)
63 SGDP_PRJ NC_000004.11 - 76988288 Apr 26, 2020 (154)
64 Siberian NC_000004.11 - 76988288 Apr 26, 2020 (154)
65 8.3KJPN NC_000004.11 - 76988288 Apr 26, 2021 (155)
66 14KJPN NC_000004.12 - 76067135 Oct 17, 2022 (156)
67 TopMed

Submission ignored due to conflicting rows:
Row 456375464 (NC_000004.12:76067134:G:A 21486/264690)
Row 456375465 (NC_000004.12:76067134:G:T 1/264690)

- Apr 26, 2021 (155)
68 TopMed

Submission ignored due to conflicting rows:
Row 456375464 (NC_000004.12:76067134:G:A 21486/264690)
Row 456375465 (NC_000004.12:76067134:G:T 1/264690)

- Apr 26, 2021 (155)
69 UK 10K study - Twins NC_000004.11 - 76988288 Oct 12, 2018 (152)
70 A Vietnamese Genetic Variation Database NC_000004.11 - 76988288 Jul 13, 2019 (153)
71 ALFA NC_000004.12 - 76067135 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
ss117053479, ss162253230, ss277783628, ss284938570, ss484863037, ss1589773624 NC_000004.10:77207311:G:A NC_000004.12:76067134:G:A (self)
21756835, 12094025, 8567769, 5342079, 12707822, 4567132, 5558923, 11289122, 2989021, 24344799, 12094025, 2663313, ss221008709, ss232452165, ss239732724, ss483159565, ss557612821, ss651422123, ss782023098, ss980274391, ss1071658549, ss1310339846, ss1429931572, ss1610391684, ss1653385717, ss1923516993, ss2022344304, ss2150472667, ss2625672450, ss2634136088, ss2705946556, ss2811013397, ss2994946300, ss3642343502, ss3662829521, ss3731282267, ss3761978533, ss3859272142, ss3905530428, ss5166375492, ss5314967455, ss5349953598, ss5507576035, ss5635340257, ss5844200613, ss5963717705 NC_000004.11:76988287:G:A NC_000004.12:76067134:G:A (self)
28619849, 154124326, 34742573, 12860736293, ss2264076868, ss3712341563, ss3805120001, ss4618997908, ss5259726989, ss5458428032, ss5541093914, ss5700905469, ss5805217510, ss5854289775, ss5864036897 NC_000004.12:76067134:G:A NC_000004.12:76067134:G:A (self)
ss104083973 NT_016354.19:1536008:G:A NC_000004.12:76067134:G:A (self)
12707822, ss3905530428 NC_000004.11:76988287:G:T NC_000004.12:76067134:G:T (self)
12860736293, ss4618997909 NC_000004.12:76067134:G:T NC_000004.12:76067134:G:T (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 rs73825734

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