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.
rs1208
Current Build 154
Released April 21, 2020
- Organism
- Homo sapiens
- Position
-
chr8:18400806 (GRCh38.p12) 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 / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.385074 (48353/125568, TOPMED)G=0.382796 (45862/119808, ExAC)G=0.424940 (45200/106368, ALFA Project) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- NAT2 : Missense Variant
- Publications
- 65 citations
- Genomic View
- See rs on genome
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.p12 chr 8 | NC_000008.11:g.18400806G>A |
| GRCh38.p12 chr 8 | NC_000008.11:g.18400806G>C |
| GRCh38.p12 chr 8 | NC_000008.11:g.18400806G>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.18258316G>A |
| GRCh37.p13 chr 8 | NC_000008.10:g.18258316G>C |
| GRCh37.p13 chr 8 | NC_000008.10:g.18258316G>T |
| NAT2 RefSeqGene | NG_012246.1:g.14562G>A |
| NAT2 RefSeqGene | NG_012246.1:g.14562G>C |
| NAT2 RefSeqGene | NG_012246.1:g.14562G>T |
Gene: NAT2, N-acetyltransferase 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NAT2 transcript | NM_000015.3:c.803G>A | R [AGA] > K [AAA] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 | NP_000006.2:p.Arg268Lys | R (Arg) > K (Lys) | Missense Variant |
| NAT2 transcript | NM_000015.3:c.803G>C | R [AGA] > T [ACA] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 | NP_000006.2:p.Arg268Thr | R (Arg) > T (Thr) | Missense Variant |
| NAT2 transcript | NM_000015.3:c.803G>T | R [AGA] > I [ATA] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 | NP_000006.2:p.Arg268Ile | R (Arg) > I (Ile) | Missense Variant |
| NAT2 transcript variant X1 | XM_017012938.1:c.803G>A | R [AGA] > K [AAA] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 isoform X1 | XP_016868427.1:p.Arg268Lys | R (Arg) > K (Lys) | Missense Variant |
| NAT2 transcript variant X1 | XM_017012938.1:c.803G>C | R [AGA] > T [ACA] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 isoform X1 | XP_016868427.1:p.Arg268Thr | R (Arg) > T (Thr) | Missense Variant |
| NAT2 transcript variant X1 | XM_017012938.1:c.803G>T | R [AGA] > I [ATA] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 isoform X1 | XP_016868427.1:p.Arg268Ile | R (Arg) > I (Ile) | Missense 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.
Allele: G= (allele ID:
15763
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000000760.1 | Slow acetylator due to N-acetyltransferase enzyme variant | Drug-Response |
ALFA Allele Frequency (New)
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: 20201027095038
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 240606 | G=0.425006 | A=0.574994, T=0.000000 |
| European | Sub | 210812 | G=0.434321 | A=0.565679, T=0.000000 |
| African | Sub | 5368 | G=0.4419 | A=0.5581, T=0.0000 |
| African Others | Sub | 178 | G=0.421 | A=0.579, T=0.000 |
| African American | Sub | 5190 | G=0.4426 | A=0.5574, T=0.0000 |
| Asian | Sub | 3442 | G=0.0302 | A=0.9698, T=0.0000 |
| East Asian | Sub | 2762 | G=0.0268 | A=0.9732, T=0.0000 |
| Other Asian | Sub | 680 | G=0.044 | A=0.956, T=0.000 |
| Latin American 1 | Sub | 952 | G=0.474 | A=0.526, T=0.000 |
| Latin American 2 | Sub | 3268 | G=0.3797 | A=0.6203, T=0.0000 |
| South Asian | Sub | 5088 | G=0.3634 | A=0.6366, T=0.0000 |
| Other | Sub | 11676 | G=0.40099 | A=0.59901, T=0.00000 |
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 | 125568 | G=0.385074 | A=0.614926 |
| ExAC | Global | Study-wide | 119808 | G=0.382796 | A=0.617204 |
| ExAC | Europe | Sub | 72448 | G=0.43386 | A=0.56614 |
| ExAC | Asian | Sub | 25026 | G=0.24738 | A=0.75262 |
| ExAC | American | Sub | 11484 | G=0.34605 | A=0.65395 |
| ExAC | African | Sub | 9954 | G=0.3905 | A=0.6095 |
| ExAC | Other | Sub | 896 | G=0.422 | A=0.578 |
| ALFA | Total | Global | 106368 | G=0.424940 | A=0.575060 |
| ALFA | European | Sub | 91704 | G=0.43251 | A=0.56749 |
| ALFA | South Asian | Sub | 4858 | G=0.3627 | A=0.6373 |
| ALFA | Other | Sub | 4222 | G=0.3884 | A=0.6116 |
| ALFA | African | Sub | 2940 | G=0.4194 | A=0.5806 |
| ALFA | Latin American 2 | Sub | 2252 | G=0.3641 | A=0.6359 |
| ALFA | Asian | Sub | 220 | G=0.055 | A=0.945 |
| ALFA | Latin American 1 | Sub | 172 | G=0.407 | A=0.593 |
| The PAGE Study | Global | Study-wide | 78696 | G=0.33942 | A=0.66058 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | G=0.40250 | A=0.59750 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.35143 | A=0.64857 |
| The PAGE Study | Asian | Sub | 8318 | G=0.0343 | A=0.9657 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.4101 | A=0.5899 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.1323 | A=0.8677 |
| The PAGE Study | Cuban | Sub | 4228 | G=0.4383 | A=0.5617 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.4227 | A=0.5773 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.3184 | A=0.6816 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.3249 | A=0.6751 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.3937 | A=0.6063 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.354 | A=0.646 |
| gnomAD - Genomes | Global | Study-wide | 31302 | G=0.40058 | A=0.59942 |
| gnomAD - Genomes | European | Sub | 18844 | G=0.43319 | A=0.56681 |
| gnomAD - Genomes | African | Sub | 8686 | G=0.3956 | A=0.6044 |
| gnomAD - Genomes | East Asian | Sub | 1558 | G=0.0359 | A=0.9641 |
| gnomAD - Genomes | Other | Sub | 1082 | G=0.4214 | A=0.5786 |
| gnomAD - Genomes | American | Sub | 842 | G=0.363 | A=0.637 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 290 | G=0.421 | A=0.579 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.3229 | A=0.6771 |
| 1000Genomes | African | Sub | 1322 | G=0.3949 | A=0.6051 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.0397 | A=0.9603 |
| 1000Genomes | Europe | Sub | 1006 | G=0.4384 | A=0.5616 |
| 1000Genomes | South Asian | Sub | 978 | G=0.363 | A=0.637 |
| 1000Genomes | American | Sub | 694 | G=0.373 | A=0.627 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.4504 | A=0.5496 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.4193 | A=0.5807 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.4283 | A=0.5717 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.0212 | A=0.9788, C=0.0000 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.3234 | A=0.6766 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.049 | A=0.951 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.338 | A=0.662 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.494 | A=0.506 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.438 | A=0.562 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.541 | A=0.459 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=0.306 | A=0.694 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.01 | A=0.99 |
| HapMap | Global | Study-wide | 1886 | G=0.3388 | A=0.6612 |
| HapMap | American | Sub | 770 | G=0.318 | A=0.682 |
| HapMap | African | Sub | 686 | G=0.448 | A=0.552 |
| HapMap | Asian | Sub | 254 | G=0.028 | A=0.972 |
| HapMap | Europe | Sub | 176 | G=0.455 | A=0.545 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.0229 | A=0.9771 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.442 | A=0.558 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 616 | G=0.075 | A=0.925 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.450 | A=0.550 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.556 | A=0.444 |
| SGDP_PRJ | Global | Study-wide | 474 | G=0.200 | A=0.800 |
| PharmGKB Aggregated | Global | Study-wide | 350 | G=0.203 | A=0.797 |
| PharmGKB Aggregated | PA147985740 | Sub | 350 | G=0.203 | A=0.797 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.438 | A=0.562 |
| Qatari | Global | Study-wide | 216 | G=0.514 | A=0.486 |
| Siberian | Global | Study-wide | 44 | G=0.39 | A=0.61 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.33 | A=0.68 |
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 | T |
|---|---|---|---|---|
| GRCh38.p12 chr 8 | NC_000008.11:g.18400806= | NC_000008.11:g.18400806G>A | NC_000008.11:g.18400806G>C | NC_000008.11:g.18400806G>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.18258316= | NC_000008.10:g.18258316G>A | NC_000008.10:g.18258316G>C | NC_000008.10:g.18258316G>T |
| NAT2 RefSeqGene | NG_012246.1:g.14562= | NG_012246.1:g.14562G>A | NG_012246.1:g.14562G>C | NG_012246.1:g.14562G>T |
| NAT2 transcript | NM_000015.3:c.803= | NM_000015.3:c.803G>A | NM_000015.3:c.803G>C | NM_000015.3:c.803G>T |
| NAT2 transcript | NM_000015.2:c.803= | NM_000015.2:c.803G>A | NM_000015.2:c.803G>C | NM_000015.2:c.803G>T |
| NAT2 transcript variant X1 | XM_017012938.1:c.803= | XM_017012938.1:c.803G>A | XM_017012938.1:c.803G>C | XM_017012938.1:c.803G>T |
| arylamine N-acetyltransferase 2 | NP_000006.2:p.Arg268= | NP_000006.2:p.Arg268Lys | NP_000006.2:p.Arg268Thr | NP_000006.2:p.Arg268Ile |
| arylamine N-acetyltransferase 2 isoform X1 | XP_016868427.1:p.Arg268= | XP_016868427.1:p.Arg268Lys | XP_016868427.1:p.Arg268Thr | XP_016868427.1:p.Arg268Ile |
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#.
153 SubSNP,
25 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF | ss1233 | Sep 19, 2000 (36) |
| 2 | LEE | ss1508882 | Oct 04, 2000 (86) |
| 3 | TSC-CSHL | ss2323986 | Oct 23, 2000 (88) |
| 4 | LEE | ss4403265 | May 29, 2002 (106) |
| 5 | SNP500CANCER | ss5586793 | Mar 31, 2003 (113) |
| 6 | SC_JCM | ss5655469 | Feb 20, 2003 (111) |
| 7 | RIKENSNPRC | ss6311250 | Feb 20, 2003 (111) |
| 8 | SSAHASNP | ss22662993 | Apr 05, 2004 (121) |
| 9 | SEQUENOM | ss24796685 | Sep 20, 2004 (123) |
| 10 | MGC_GENOME_DIFF | ss28497870 | Sep 24, 2004 (126) |
| 11 | MGC_GENOME_DIFF | ss28512667 | Sep 24, 2004 (126) |
| 12 | ABI | ss44882625 | Mar 11, 2006 (126) |
| 13 | ILLUMINA | ss65725493 | Oct 16, 2006 (127) |
| 14 | ILLUMINA | ss66669271 | Dec 02, 2006 (127) |
| 15 | EGP_SNPS | ss66858970 | Dec 02, 2006 (127) |
| 16 | ILLUMINA | ss66980685 | Dec 02, 2006 (127) |
| 17 | ILLUMINA | ss67153062 | Dec 02, 2006 (127) |
| 18 | PERLEGEN | ss69042400 | May 18, 2007 (127) |
| 19 | ILLUMINA | ss70404689 | May 18, 2007 (127) |
| 20 | EGP_SNPS | ss70456621 | May 18, 2007 (127) |
| 21 | ILLUMINA | ss70554774 | May 25, 2008 (130) |
| 22 | ILLUMINA | ss71091482 | May 18, 2007 (127) |
| 23 | AFFY | ss74810963 | Aug 16, 2007 (128) |
| 24 | ILLUMINA | ss75590894 | Dec 06, 2007 (129) |
| 25 | AFFY | ss76467172 | Dec 08, 2007 (130) |
| 26 | CGM_KYOTO | ss76866282 | Dec 06, 2007 (129) |
| 27 | SI_EXO | ss76883728 | Dec 06, 2007 (129) |
| 28 | HGSV | ss77248065 | Dec 06, 2007 (129) |
| 29 | KRIBB_YJKIM | ss83344498 | Dec 15, 2007 (130) |
| 30 | PHARMGKB_AB_DME | ss84168271 | Dec 15, 2007 (130) |
| 31 | CORNELL | ss86271255 | Mar 23, 2008 (129) |
| 32 | BCMHGSC_JDW | ss93848832 | Mar 25, 2008 (129) |
| 33 | SHGC | ss99307910 | Feb 05, 2009 (130) |
| 34 | BGI | ss105603531 | Feb 05, 2009 (130) |
| 35 | 1000GENOMES | ss112880890 | Jan 25, 2009 (130) |
| 36 | 1000GENOMES | ss115075143 | Jan 25, 2009 (130) |
| 37 | ILLUMINA-UK | ss115861056 | Feb 14, 2009 (130) |
| 38 | ILLUMINA | ss120036393 | Dec 01, 2009 (131) |
| 39 | ILLUMINA | ss121534681 | Dec 01, 2009 (131) |
| 40 | OMIM-CURATED-RECORDS | ss140405883 | Dec 01, 2009 (131) |
| 41 | ENSEMBL | ss143310648 | Dec 01, 2009 (131) |
| 42 | ILLUMINA | ss153127416 | Dec 01, 2009 (131) |
| 43 | GMI | ss156100879 | Dec 01, 2009 (131) |
| 44 | ILLUMINA | ss159202860 | Dec 01, 2009 (131) |
| 45 | SEATTLESEQ | ss159716517 | Dec 01, 2009 (131) |
| 46 | COMPLETE_GENOMICS | ss162207626 | Jul 04, 2010 (132) |
| 47 | COMPLETE_GENOMICS | ss164094717 | Jul 04, 2010 (132) |
| 48 | COMPLETE_GENOMICS | ss166321100 | Jul 04, 2010 (132) |
| 49 | ILLUMINA | ss170039824 | Jul 04, 2010 (132) |
| 50 | ILLUMINA | ss171840544 | Jul 04, 2010 (132) |
| 51 | BUSHMAN | ss198867410 | Jul 04, 2010 (132) |
| 52 | 1000GENOMES | ss223576394 | Jul 14, 2010 (132) |
| 53 | 1000GENOMES | ss234345865 | Jul 15, 2010 (132) |
| 54 | 1000GENOMES | ss241221835 | Jul 15, 2010 (132) |
| 55 | OMICIA | ss244238724 | May 27, 2010 (132) |
| 56 | ILLUMINA | ss244275240 | Jul 04, 2010 (132) |
| 57 | OMIM-CURATED-RECORDS | ss252841662 | Aug 12, 2010 (132) |
| 58 | BL | ss254157071 | May 09, 2011 (134) |
| 59 | GMI | ss279717738 | May 04, 2012 (137) |
| 60 | GMI | ss285804793 | Apr 25, 2013 (138) |
| 61 | PJP | ss294231048 | May 09, 2011 (134) |
| 62 | NHLBI-ESP | ss342253623 | May 09, 2011 (134) |
| 63 | ILLUMINA | ss410878057 | Sep 17, 2011 (135) |
| 64 | ILLUMINA | ss482929024 | May 04, 2012 (137) |
| 65 | ILLUMINA | ss485580724 | May 04, 2012 (137) |
| 66 | 1000GENOMES | ss490960730 | May 04, 2012 (137) |
| 67 | EXOME_CHIP | ss491410771 | May 04, 2012 (137) |
| 68 | CLINSEQ_SNP | ss491921843 | May 04, 2012 (137) |
| 69 | ILLUMINA | ss534825412 | Sep 08, 2015 (146) |
| 70 | TISHKOFF | ss560588645 | Apr 25, 2013 (138) |
| 71 | SSMP | ss655024500 | Apr 25, 2013 (138) |
| 72 | ILLUMINA | ss779493730 | Sep 08, 2015 (146) |
| 73 | ILLUMINA | ss780867835 | Sep 08, 2015 (146) |
| 74 | ILLUMINA | ss781924508 | Sep 08, 2015 (146) |
| 75 | ILLUMINA | ss783552766 | Sep 08, 2015 (146) |
| 76 | ILLUMINA | ss825373963 | Jul 19, 2016 (147) |
| 77 | ILLUMINA | ss832715307 | Jul 13, 2019 (153) |
| 78 | ILLUMINA | ss834963895 | Sep 08, 2015 (146) |
| 79 | JMKIDD_LAB | ss974467367 | Aug 21, 2014 (142) |
| 80 | EVA-GONL | ss985256289 | Aug 21, 2014 (142) |
| 81 | JMKIDD_LAB | ss1067495866 | Aug 21, 2014 (142) |
| 82 | JMKIDD_LAB | ss1075326288 | Aug 21, 2014 (142) |
| 83 | 1000GENOMES | ss1328853924 | Aug 21, 2014 (142) |
| 84 | DDI | ss1431436719 | Apr 01, 2015 (144) |
| 85 | EVA_GENOME_DK | ss1582586562 | Apr 01, 2015 (144) |
| 86 | EVA_FINRISK | ss1584057291 | Apr 01, 2015 (144) |
| 87 | EVA_DECODE | ss1594845142 | Apr 01, 2015 (144) |
| 88 | EVA_UK10K_ALSPAC | ss1620100548 | Apr 01, 2015 (144) |
| 89 | EVA_UK10K_TWINSUK | ss1663094581 | Apr 01, 2015 (144) |
| 90 | EVA_EXAC | ss1689107941 | Apr 01, 2015 (144) |
| 91 | EVA_MGP | ss1711194416 | Apr 01, 2015 (144) |
| 92 | EVA_SVP | ss1713019602 | Apr 01, 2015 (144) |
| 93 | HAMMER_LAB | ss1805425820 | Sep 08, 2015 (146) |
| 94 | WEILL_CORNELL_DGM | ss1928545820 | Feb 12, 2016 (147) |
| 95 | ILLUMINA | ss1946231122 | Feb 12, 2016 (147) |
| 96 | ILLUMINA | ss1959092419 | Feb 12, 2016 (147) |
| 97 | AMU | ss1966657101 | Feb 12, 2016 (147) |
| 98 | GENOMED | ss1970925402 | Jul 19, 2016 (147) |
| 99 | JJLAB | ss2024971342 | Sep 14, 2016 (149) |
| 100 | USC_VALOUEV | ss2153192871 | Dec 20, 2016 (150) |
| 101 | HUMAN_LONGEVITY | ss2301164580 | Dec 20, 2016 (150) |
| 102 | TOPMED | ss2470822176 | Dec 20, 2016 (150) |
| 103 | SYSTEMSBIOZJU | ss2626970490 | Nov 08, 2017 (151) |
| 104 | ILLUMINA | ss2634717915 | Nov 08, 2017 (151) |
| 105 | ILLUMINA | ss2634717916 | Nov 08, 2017 (151) |
| 106 | ILLUMINA | ss2634717917 | Nov 08, 2017 (151) |
| 107 | GRF | ss2708953254 | Nov 08, 2017 (151) |
| 108 | ILLUMINA | ss2711131681 | Nov 08, 2017 (151) |
| 109 | GNOMAD | ss2737016796 | Nov 08, 2017 (151) |
| 110 | GNOMAD | ss2748005973 | Nov 08, 2017 (151) |
| 111 | GNOMAD | ss2863932631 | Nov 08, 2017 (151) |
| 112 | SWEGEN | ss3002780531 | Nov 08, 2017 (151) |
| 113 | ILLUMINA | ss3022824464 | Nov 08, 2017 (151) |
| 114 | BIOINF_KMB_FNS_UNIBA | ss3026276051 | Nov 08, 2017 (151) |
| 115 | CSIRBIOHTS | ss3029637981 | Nov 08, 2017 (151) |
| 116 | CSHL | ss3348074288 | Nov 08, 2017 (151) |
| 117 | TOPMED | ss3555514804 | Nov 08, 2017 (151) |
| 118 | ILLUMINA | ss3625946943 | Oct 12, 2018 (152) |
| 119 | ILLUMINA | ss3625946944 | Oct 12, 2018 (152) |
| 120 | ILLUMINA | ss3630009738 | Oct 12, 2018 (152) |
| 121 | ILLUMINA | ss3630009739 | Oct 12, 2018 (152) |
| 122 | ILLUMINA | ss3632618572 | Oct 12, 2018 (152) |
| 123 | ILLUMINA | ss3635161294 | Oct 12, 2018 (152) |
| 124 | ILLUMINA | ss3638747291 | Oct 12, 2018 (152) |
| 125 | ILLUMINA | ss3639376103 | Oct 12, 2018 (152) |
| 126 | ILLUMINA | ss3639716882 | Oct 12, 2018 (152) |
| 127 | ILLUMINA | ss3640868584 | Oct 12, 2018 (152) |
| 128 | ILLUMINA | ss3643679170 | Oct 12, 2018 (152) |
| 129 | ILLUMINA | ss3644964296 | Oct 12, 2018 (152) |
| 130 | OMUKHERJEE_ADBS | ss3646372878 | Oct 12, 2018 (152) |
| 131 | URBANLAB | ss3648864872 | Oct 12, 2018 (152) |
| 132 | ILLUMINA | ss3653365294 | Oct 12, 2018 (152) |
| 133 | EGCUT_WGS | ss3670459168 | Jul 13, 2019 (153) |
| 134 | EVA_DECODE | ss3721526509 | Jul 13, 2019 (153) |
| 135 | ILLUMINA | ss3726518845 | Jul 13, 2019 (153) |
| 136 | ACPOP | ss3735453500 | Jul 13, 2019 (153) |
| 137 | ILLUMINA | ss3744302590 | Jul 13, 2019 (153) |
| 138 | ILLUMINA | ss3745461084 | Jul 13, 2019 (153) |
| 139 | EVA | ss3767698260 | Jul 13, 2019 (153) |
| 140 | PAGE_CC | ss3771427498 | Jul 13, 2019 (153) |
| 141 | PACBIO | ss3786082989 | Jul 13, 2019 (153) |
| 142 | PACBIO | ss3791349757 | Jul 13, 2019 (153) |
| 143 | PACBIO | ss3796230926 | Jul 13, 2019 (153) |
| 144 | KHV_HUMAN_GENOMES | ss3810861620 | Jul 13, 2019 (153) |
| 145 | EVA | ss3824350644 | Apr 26, 2020 (154) |
| 146 | EVA | ss3825736891 | Apr 26, 2020 (154) |
| 147 | EVA | ss3831046607 | Apr 26, 2020 (154) |
| 148 | EVA | ss3839033013 | Apr 26, 2020 (154) |
| 149 | EVA | ss3844490962 | Apr 26, 2020 (154) |
| 150 | HGDP | ss3847906106 | Apr 26, 2020 (154) |
| 151 | SGDP_PRJ | ss3869405019 | Apr 26, 2020 (154) |
| 152 | KRGDB | ss3916829887 | Apr 26, 2020 (154) |
| 153 | KOGIC | ss3963375453 | Apr 26, 2020 (154) |
| 154 | 1000Genomes | NC_000008.10 - 18258316 | Oct 12, 2018 (152) |
| 155 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 18258316 | Oct 12, 2018 (152) |
| 156 | Genetic variation in the Estonian population | NC_000008.10 - 18258316 | Oct 12, 2018 (152) |
| 157 | ExAC | NC_000008.10 - 18258316 | Oct 12, 2018 (152) |
| 158 | FINRISK | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 159 | The Danish reference pan genome | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 160 | gnomAD - Genomes | NC_000008.10 - 18258316 | Jul 13, 2019 (153) |
| 161 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 162 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 163 | Genome of the Netherlands Release 5 | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 164 | HGDP-CEPH-db Supplement 1 | NC_000008.9 - 18302596 | Apr 26, 2020 (154) |
| 165 | HapMap | NC_000008.11 - 18400806 | Apr 26, 2020 (154) |
| 166 | KOREAN population from KRGDB | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 167 | Korean Genome Project | NC_000008.11 - 18400806 | Apr 26, 2020 (154) |
| 168 | Medical Genome Project healthy controls from Spanish population | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 169 | Northern Sweden | NC_000008.10 - 18258316 | Jul 13, 2019 (153) |
| 170 | The PAGE Study | NC_000008.11 - 18400806 | Jul 13, 2019 (153) |
| 171 | PharmGKB Aggregated | NC_000008.11 - 18400806 | Apr 26, 2020 (154) |
| 172 | Qatari | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 173 | SGDP_PRJ | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 174 | Siberian | NC_000008.10 - 18258316 | Apr 26, 2020 (154) |
| 175 | TopMed | NC_000008.11 - 18400806 | Oct 12, 2018 (152) |
| 176 | UK 10K study - Twins | NC_000008.10 - 18258316 | Oct 12, 2018 (152) |
| 177 | A Vietnamese Genetic Variation Database | NC_000008.10 - 18258316 | Jul 13, 2019 (153) |
| 178 | dbGaP Population Frequency Project | NC_000008.11 - 18400806 | Apr 26, 2020 (154) |
| 179 | ClinVar | RCV000000760.1 | Oct 12, 2018 (152) |
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) |
|---|---|
| rs3181478 | Jul 03, 2002 (106) |
| rs17126586 | Oct 08, 2004 (123) |
| rs17845485 | Mar 11, 2006 (126) |
| rs17858365 | Mar 11, 2006 (126) |
| rs52821724 | Sep 21, 2007 (128) |
| rs56599719 | May 25, 2008 (130) |
| rs58999469 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 583998, ss76467172, ss77248065, ss93848832, ss112880890, ss115075143, ss115861056, ss162207626, ss164094717, ss166321100, ss198867410, ss254157071, ss279717738, ss285804793, ss294231048, ss485580724, ss491921843, ss825373963, ss1594845142, ss1713019602, ss3639376103, ss3639716882, ss3643679170, ss3847906106 | NC_000008.9:18302595:G:A | NC_000008.11:18400805:G:A | (self) |
| 40947106, 22761478, 16197416, 9201301, 53752, 8751500, 111847209, 10170882, 24007281, 310176, 8738365, 10587750, 21421999, 5709225, 22761478, 5074610, ss223576394, ss234345865, ss241221835, ss342253623, ss482929024, ss490960730, ss491410771, ss534825412, ss560588645, ss655024500, ss779493730, ss780867835, ss781924508, ss783552766, ss832715307, ss834963895, ss974467367, ss985256289, ss1067495866, ss1075326288, ss1328853924, ss1431436719, ss1582586562, ss1584057291, ss1620100548, ss1663094581, ss1689107941, ss1711194416, ss1805425820, ss1928545820, ss1946231122, ss1959092419, ss1966657101, ss1970925402, ss2024971342, ss2153192871, ss2470822176, ss2626970490, ss2634717915, ss2634717916, ss2634717917, ss2708953254, ss2711131681, ss2737016796, ss2748005973, ss2863932631, ss3002780531, ss3022824464, ss3029637981, ss3348074288, ss3625946943, ss3625946944, ss3630009738, ss3630009739, ss3632618572, ss3635161294, ss3638747291, ss3640868584, ss3644964296, ss3646372878, ss3653365294, ss3670459168, ss3735453500, ss3744302590, ss3745461084, ss3767698260, ss3786082989, ss3791349757, ss3796230926, ss3824350644, ss3825736891, ss3831046607, ss3839033013, ss3869405019, ss3916829887 | NC_000008.10:18258315:G:A | NC_000008.11:18400805:G:A | (self) |
| 3577451, 19753454, 648967, 12432, 384382927, 339771926, ss140405883, ss244238724, ss252841662, ss2301164580, ss3026276051, ss3555514804, ss3648864872, ss3721526509, ss3726518845, ss3771427498, ss3810861620, ss3844490962, ss3963375453 | NC_000008.11:18400805:G:A | NC_000008.11:18400805:G:A | (self) |
| ss22662993 | NT_030737.8:6069236:G:A | NC_000008.11:18400805:G:A | (self) |
| ss76883728 | NT_030737.9:6103243:G:A | NC_000008.11:18400805:G:A | (self) |
| ss1233, ss1508882, ss2323986, ss4403265, ss5586793, ss5655469, ss6311250, ss24796685, ss28497870, ss28512667, ss44882625, ss65725493, ss66669271, ss66858970, ss66980685, ss67153062, ss69042400, ss70404689, ss70456621, ss70554774, ss71091482, ss74810963, ss75590894, ss76866282, ss83344498, ss84168271, ss86271255, ss99307910, ss105603531, ss120036393, ss121534681, ss143310648, ss153127416, ss156100879, ss159202860, ss159716517, ss170039824, ss171840544, ss244275240, ss410878057 | NT_167187.1:6116461:G:A | NC_000008.11:18400805:G:A | (self) |
| 24007281, ss3916829887 | NC_000008.10:18258315:G:C | NC_000008.11:18400805:G:C | |
| ss2737016796 | NC_000008.10:18258315:G:T | NC_000008.11:18400805: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.
65
citations for rs1208
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 2068113 | Diverse point mutations in the human gene for polymorphic N-acetyltransferase. | Vatsis KP et al. | 1991 | Proceedings of the National Academy of Sciences of the United States of America |
| 6721992 | A simple test for acetylator phenotype using caffeine. | Grant DM et al. | 1984 | British journal of clinical pharmacology |
| 8807666 | NAT2*12A (803A-->G) codes for rapid arylamine n-acetylation in humans. | Cascorbi I et al. | 1996 | Pharmacogenetics |
| 14724163 | Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. | Crabtree MD et al. | 2004 | Gut |
| 15911586 | Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci. | Hughes AL et al. | 2005 | Genetics |
| 16112301 | NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. | García-Closas M et al. | 2005 | Lancet (London, England) |
| 16416399 | Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. | Patin E et al. | 2006 | American journal of human genetics |
| 16847422 | Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma. | Morton LM et al. | 2006 | Pharmacogenetics and genomics |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 18664443 | Unraveling ambiguous NAT2 genotyping data. | Agúndez JA et al. | 2008 | Clinical chemistry |
| 18680467 | Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. | Walraven JM et al. | 2008 | Current drug metabolism |
| 18773084 | Multiple advantageous amino acid variants in the NAT2 gene in human populations. | Luca F et al. | 2008 | PloS one |
| 18936436 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | 2009 | American journal of epidemiology |
| 19164093 | Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. | Matimba A et al. | 2009 | Human genomics |
| 19809881 | Genetic variation in N-acetyltransferases 1 and 2, cigarette smoking, and risk of non-Hodgkin lymphoma. | Kilfoy BA et al. | 2010 | Cancer causes & control |
| 19822571 | Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma. | Zhang Y et al. | 2009 | American journal of epidemiology |
| 20029944 | Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival. | Han X et al. | 2010 | American journal of hematology |
| 20043821 | Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data. | Sabbagh A et al. | 2009 | BMC medical genetics |
| 20131310 | Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma. | Li Y et al. | 2010 | American journal of hematology |
| 20436251 | Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. | Ferrucci LM et al. | 2010 | World review of nutrition and dietetics |
| 20459474 | Can we predict top-level sports performance in power vs endurance events? A genetic approach. | Buxens A et al. | 2011 | Scandinavian journal of medicine & science in sports |
| 20739907 | A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background. | García-Closas M et al. | 2011 | Pharmacogenetics and genomics |
| 20923563 | Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations. | Talbot J et al. | 2010 | BMC genetics |
| 21037224 | GSTM1 null and NAT2 slow acetylation genotypes, smoking intensity and bladder cancer risk: results from the New England bladder cancer study and NAT2 meta-analysis. | Moore LE et al. | 2011 | Carcinogenesis |
| 21382071 | Altered xanthine oxidase and N-acetyltransferase activity in obese children. | Chiney MS et al. | 2011 | British journal of clinical pharmacology |
| 21474949 | Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. | Ferrucci LM et al. | 2010 | Journal of nutrigenetics and nutrigenomics |
| 21494681 | Arylamine N-acetyltransferase 2 (NAT2) genetic diversity and traditional subsistence: a worldwide population survey. | Sabbagh A et al. | 2011 | PloS one |
| 21678399 | Hair dye use and risk of bladder cancer in the New England bladder cancer study. | Koutros S et al. | 2011 | International journal of cancer |
| 21684175 | alcohol, smoking, and caffeine in relation to fecundability, with effect modification by NAT2. | Taylor KC et al. | 2011 | Annals of epidemiology |
| 21709725 | No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent. | Kidd LC et al. | 2011 | Biomarkers in cancer |
| 21818772 | Kernel machine SNP-set analysis for censored survival outcomes in genome-wide association studies. | Lin X et al. | 2011 | Genetic epidemiology |
| 21894447 | Are centenarians genetically predisposed to lower disease risk? | Ruiz JR et al. | 2012 | Age (Dordrecht, Netherlands) |
| 21989592 | Impact of interactions of cigarette smoking with NAT2 polymorphisms on rheumatoid arthritis risk in African Americans. | Mikuls TR et al. | 2012 | Arthritis and rheumatism |
| 22092036 | Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes. | Hein DW et al. | 2012 | Pharmacogenomics |
| 22162992 | Pharmacogenetic & pharmacokinetic biomarker for efavirenz based ARV and rifampicin based anti-TB drug induced liver injury in TB-HIV infected patients. | Yimer G et al. | 2011 | PloS one |
| 22301281 | Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk. | Jang JH et al. | 2012 | Carcinogenesis |
| 22424094 | Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. | Potts LF et al. | 2012 | BMC medical genetics |
| 22645715 | Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. | Heck JE et al. | 2012 | Frontiers in oncology |
| 23015320 | Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps. | Fu Z et al. | 2012 | The American journal of clinical nutrition |
| 23226154 | Polymorphisms of Phase I and Phase II Enzymes and Breast Cancer Risk. | Justenhoven C et al. | 2012 | Frontiers in genetics |
| 23299405 | Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. | Fu Z et al. | 2013 | Carcinogenesis |
| 24151610 | Polymorphisms in the human cytochrome P450 and arylamine N-acetyltransferase: susceptibility to head and neck cancers. | Khlifi R et al. | 2013 | BioMed research international |
| 24892773 | PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2. | McDonagh EM et al. | 2014 | Pharmacogenetics and genomics |
| 24909419 | A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics? | Baietto L et al. | 2014 | Current drug metabolism |
| 24934312 | Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction. | Khlifi R et al. | 2014 | Molecular biology reports |
| 24939416 | CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. | Gil J et al. | 2014 | Medical oncology (Northwood, London, England) |
| 25980667 | Pharmacogenetics of treatment response in psoriatic arthritis. | Jani M et al. | 2015 | Current rheumatology reports |
| 26683305 | Interaction between Red Meat Intake and NAT2 Genotype in Increasing the Risk of Colorectal Cancer in Japanese and African Americans. | Wang H et al. | 2015 | PloS one |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 27136043 | Single nucleotide polymorphism coverage and inference of N-acetyltransferase-2 acetylator phenotypes in wordwide population groups. | Suarez-Kurtz G et al. | 2016 | Pharmacogenetics and genomics |
| 27223070 | Differential association for N-acetyltransferase 2 genotype and phenotype with bladder cancer risk in Chinese population. | Quan L et al. | 2016 | Oncotarget |
| 27312935 | Genetics of Insulin Resistance and the Metabolic Syndrome. | Brown AE et al. | 2016 | Current cardiology reports |
| 27332812 | Hepatotoxicity during Treatment for Tuberculosis in People Living with HIV/AIDS. | Araújo-Mariz C et al. | 2016 | PloS one |
| 27416945 | Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. | Walford GA et al. | 2016 | Diabetes |
| 27488001 | N-acetyltransferase 2 (NAT2) gene polymorphism as a predisposing factor for phenytoin intoxication in tuberculous meningitis or tuberculoma patients having seizures - A pilot study. | Adole PS et al. | 2016 | The Indian journal of medical research |
| 28028995 | Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations. | Choi R et al. | 2017 | Annals of laboratory medicine |
| 28187106 | Association between NAT2 polymorphisms and the risk of schizophrenia in a Northern Chinese Han population. | Luan Z et al. | 2017 | Psychiatric genetics |
| 28803404 | Polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes, CYP1A1 xenobiotic metabolism gene, and tobacco are associated with bladder cancer susceptibility in Tunisian population. | Feki-Tounsi M et al. | 2017 | Environmental science and pollution research international |
| 28870161 | Chronic dialysis, NAT2 polymorphisms, and the risk of isoniazid-induced encephalopathy - case report and literature review. | Constantinescu SM et al. | 2017 | BMC nephrology |
| 29303622 | Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers. | Kamble PG et al. | 2017 | Upsala journal of medical sciences |
| 29681089 | Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. | Padula AM et al. | 2018 | American journal of medical genetics. Part A |
| 30452466 | Characterization of ADME genes variation in Roma and 20 populations worldwide. | Škarić-Jurić T et al. | 2018 | PloS one |
| 31254350 | Risk of congenital heart diseases associated with NAT2 genetic polymorphisms and maternal polycyclic aromatic hydrocarbons exposure. | Tao J et al. | 2019 | Prenatal diagnosis |
| 31881062 | NAT2 gene polymorphisms and endometriosis risk: A PRISMA-compliant meta-analysis. | Wei Z et al. | 2019 | PloS one |
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
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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.
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.