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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.

rs1801279

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400194 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.006199 (1554/250678, GnomAD_exome)
A=0.003898 (513/131606, ALFA Project)
A=0.026440 (3320/125568, TOPMED) (+ 9 more)
A=0.007891 (955/121028, ExAC)
A=0.03943 (3103/78700, PAGE_STUDY)
A=0.02394 (751/31372, GnomAD)
A=0.02645 (344/13006, GO-ESP)
A=0.0278 (139/5008, 1000G)
A=0.0000 (0/1134, Daghestan)
A=0.001 (1/998, GoNL)
G=0.50 (7/14, SGDP_PRJ)
A=0.50 (7/14, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
41 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.18400194G>A
GRCh37.p13 chr 8 NC_000008.10:g.18257704G>A
NAT2 RefSeqGene NG_012246.1:g.13950G>A
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.191G>A R [CGG] > Q [CAG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg64Gln R (Arg) > Q (Gln) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.191G>A R [CGG] > Q [CAG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg64Gln R (Arg) > Q (Gln) 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: A (allele ID: 15765 )
ClinVar Accession Disease Names Clinical Significance
RCV000000762.1 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 190634 G=0.995310 A=0.004690
European Sub 157586 G=0.999664 A=0.000336
African Sub 9038 G=0.9200 A=0.0800
African Others Sub 302 G=0.874 A=0.126
African American Sub 8736 G=0.9216 A=0.0784
Asian Sub 3666 G=1.0000 A=0.0000
East Asian Sub 2318 G=1.0000 A=0.0000
Other Asian Sub 1348 G=1.0000 A=0.0000
Latin American 1 Sub 1016 G=0.9764 A=0.0236
Latin American 2 Sub 2190 G=0.9954 A=0.0046
South Asian Sub 174 G=1.000 A=0.000
Other Sub 16964 G=0.99505 A=0.00495


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 - Exomes Global Study-wide 250678 G=0.993801 A=0.006199
gnomAD - Exomes European Sub 134936 G=0.999733 A=0.000267
gnomAD - Exomes Asian Sub 48918 G=0.99986 A=0.00014
gnomAD - Exomes American Sub 34478 G=0.99548 A=0.00452
gnomAD - Exomes African Sub 16228 G=0.91780 A=0.08220
gnomAD - Exomes Ashkenazi Jewish Sub 10006 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6112 G=0.9966 A=0.0034
ALFA Total Global 131606 G=0.996102 A=0.003898
ALFA European Sub 114380 G=0.999624 A=0.000376
ALFA Other Sub 9784 G=0.9953 A=0.0047
ALFA African Sub 5228 G=0.9220 A=0.0780
ALFA Latin American 2 Sub 1304 G=0.9946 A=0.0054
ALFA Latin American 1 Sub 484 G=0.983 A=0.017
ALFA Asian Sub 358 G=1.000 A=0.000
ALFA South Asian Sub 68 G=0.99 A=0.01
TopMed Global Study-wide 125568 G=0.973560 A=0.026440
ExAC Global Study-wide 121028 G=0.992109 A=0.007891
ExAC Europe Sub 73198 G=0.99977 A=0.00023
ExAC Asian Sub 25008 G=0.99988 A=0.00012
ExAC American Sub 11526 G=0.99566 A=0.00434
ExAC African Sub 10394 G=0.91505 A=0.08495
ExAC Other Sub 902 G=0.998 A=0.002
The PAGE Study Global Study-wide 78700 G=0.96057 A=0.03943
The PAGE Study AfricanAmerican Sub 32514 G=0.92225 A=0.07775
The PAGE Study Mexican Sub 10810 G=0.99621 A=0.00379
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9693 A=0.0307
The PAGE Study NativeHawaiian Sub 4534 G=0.9978 A=0.0022
The PAGE Study Cuban Sub 4230 G=0.9844 A=0.0156
The PAGE Study Dominican Sub 3828 G=0.9634 A=0.0366
The PAGE Study CentralAmerican Sub 2450 G=0.9845 A=0.0155
The PAGE Study SouthAmerican Sub 1982 G=0.9909 A=0.0091
The PAGE Study NativeAmerican Sub 1260 G=0.9857 A=0.0143
The PAGE Study SouthAsian Sub 856 G=0.999 A=0.001
gnomAD - Genomes Global Study-wide 31372 G=0.97606 A=0.02394
gnomAD - Genomes European Sub 18894 G=0.99974 A=0.00026
gnomAD - Genomes African Sub 8700 G=0.9161 A=0.0839
gnomAD - Genomes East Asian Sub 1558 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 1086 G=0.9926 A=0.0074
gnomAD - Genomes American Sub 846 G=0.991 A=0.009
gnomAD - Genomes Ashkenazi Jewish Sub 288 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.97355 A=0.02645
GO Exome Sequencing Project European American Sub 8600 G=0.9995 A=0.0005
GO Exome Sequencing Project African American Sub 4406 G=0.9228 A=0.0772
1000Genomes Global Study-wide 5008 G=0.9722 A=0.0278
1000Genomes African Sub 1322 G=0.8971 A=0.1029
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.997 A=0.003
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=1.0000 A=0.0000
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan Europe Sub 108 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=1.00 A=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.999 A=0.001
SGDP_PRJ Global Study-wide 14 G=0.50 A=0.50
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
GRCh38.p12 chr 8 NC_000008.11:g.18400194= NC_000008.11:g.18400194G>A
GRCh37.p13 chr 8 NC_000008.10:g.18257704= NC_000008.10:g.18257704G>A
NAT2 RefSeqGene NG_012246.1:g.13950= NG_012246.1:g.13950G>A
NAT2 transcript NM_000015.3:c.191= NM_000015.3:c.191G>A
NAT2 transcript NM_000015.2:c.191= NM_000015.2:c.191G>A
NAT2 transcript variant X1 XM_017012938.1:c.191= XM_017012938.1:c.191G>A
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg64= NP_000006.2:p.Arg64Gln
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg64= XP_016868427.1:p.Arg64Gln
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#.

102 SubSNP, 11 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421518 Nov 14, 2000 (89)
2 SEQUENOM ss24796682 Sep 20, 2004 (123)
3 EGP_SNPS ss66858966 Nov 30, 2006 (127)
4 PERLEGEN ss69042396 May 17, 2007 (127)
5 EGP_SNPS ss70456612 May 17, 2007 (127)
6 AFFY ss74813623 Aug 16, 2007 (128)
7 CGM_KYOTO ss76869168 Dec 06, 2007 (129)
8 CORNELL ss86271257 Mar 23, 2008 (129)
9 1000GENOMES ss115075062 Jan 25, 2009 (130)
10 ILLUMINA ss120035950 Dec 01, 2009 (131)
11 SEATTLESEQ ss159716511 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss164094673 Jul 04, 2010 (132)
13 1000GENOMES ss223576387 Jul 14, 2010 (132)
14 NHLBI-ESP ss342253600 May 09, 2011 (134)
15 ILLUMINA ss410878050 Sep 17, 2011 (135)
16 ILLUMINA ss480300989 May 04, 2012 (137)
17 ILLUMINA ss480312103 May 04, 2012 (137)
18 ILLUMINA ss481067887 Sep 08, 2015 (146)
19 ILLUMINA ss482176874 May 04, 2012 (137)
20 ILLUMINA ss484948307 May 04, 2012 (137)
21 ILLUMINA ss485580718 May 04, 2012 (137)
22 1000GENOMES ss490960716 May 04, 2012 (137)
23 EXOME_CHIP ss491410754 May 04, 2012 (137)
24 ILLUMINA ss534532305 Sep 08, 2015 (146)
25 ILLUMINA ss536992455 Sep 08, 2015 (146)
26 TISHKOFF ss560588638 Apr 25, 2013 (138)
27 ILLUMINA ss778841551 Sep 08, 2015 (146)
28 ILLUMINA ss780650150 Sep 08, 2015 (146)
29 ILLUMINA ss780867821 Sep 08, 2015 (146)
30 ILLUMINA ss781674493 Sep 08, 2015 (146)
31 ILLUMINA ss782920461 Sep 08, 2015 (146)
32 ILLUMINA ss783552752 Sep 08, 2015 (146)
33 ILLUMINA ss783601150 Sep 08, 2015 (146)
34 ILLUMINA ss783883487 Sep 08, 2015 (146)
35 ILLUMINA ss832175588 Sep 08, 2015 (146)
36 ILLUMINA ss834302109 Sep 08, 2015 (146)
37 ILLUMINA ss836144967 Sep 08, 2015 (146)
38 EVA-GONL ss985256278 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1067495860 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1075326282 Aug 21, 2014 (142)
41 1000GENOMES ss1328853892 Aug 21, 2014 (142)
42 HAMMER_LAB ss1397519432 Sep 08, 2015 (146)
43 OMIM-CURATED-RECORDS ss1505810735 Oct 12, 2018 (152)
44 EVA_EXAC ss1689107810 Apr 01, 2015 (144)
45 ILLUMINA ss1752722179 Sep 08, 2015 (146)
46 ILLUMINA ss1752722180 Sep 08, 2015 (146)
47 HAMMER_LAB ss1805425817 Sep 08, 2015 (146)
48 ILLUMINA ss1917826202 Feb 12, 2016 (147)
49 ILLUMINA ss1946231105 Feb 12, 2016 (147)
50 ILLUMINA ss1946231106 Feb 12, 2016 (147)
51 ILLUMINA ss1959092395 Feb 12, 2016 (147)
52 ILLUMINA ss1959092396 Feb 12, 2016 (147)
53 JJLAB ss2024971335 Sep 14, 2016 (149)
54 HUMAN_LONGEVITY ss2301164529 Dec 20, 2016 (150)
55 TOPMED ss2470822128 Dec 20, 2016 (150)
56 ILLUMINA ss2634717895 Nov 08, 2017 (151)
57 ILLUMINA ss2634717896 Nov 08, 2017 (151)
58 ILLUMINA ss2634717897 Nov 08, 2017 (151)
59 ILLUMINA ss2711131665 Nov 08, 2017 (151)
60 GNOMAD ss2737016609 Nov 08, 2017 (151)
61 GNOMAD ss2748005912 Nov 08, 2017 (151)
62 GNOMAD ss2863932570 Nov 08, 2017 (151)
63 AFFY ss2985432609 Nov 08, 2017 (151)
64 AFFY ss2986074655 Nov 08, 2017 (151)
65 ILLUMINA ss3022824445 Nov 08, 2017 (151)
66 ILLUMINA ss3022824446 Nov 08, 2017 (151)
67 CSIRBIOHTS ss3029637974 Nov 08, 2017 (151)
68 TOPMED ss3555514690 Nov 08, 2017 (151)
69 ILLUMINA ss3625946936 Oct 12, 2018 (152)
70 ILLUMINA ss3625946937 Oct 12, 2018 (152)
71 ILLUMINA ss3630009712 Oct 12, 2018 (152)
72 ILLUMINA ss3630009713 Oct 12, 2018 (152)
73 ILLUMINA ss3630009714 Oct 12, 2018 (152)
74 ILLUMINA ss3632618564 Oct 12, 2018 (152)
75 ILLUMINA ss3632618565 Oct 12, 2018 (152)
76 ILLUMINA ss3633492978 Oct 12, 2018 (152)
77 ILLUMINA ss3634219381 Oct 12, 2018 (152)
78 ILLUMINA ss3635161275 Oct 12, 2018 (152)
79 ILLUMINA ss3635161276 Oct 12, 2018 (152)
80 ILLUMINA ss3636898277 Oct 12, 2018 (152)
81 ILLUMINA ss3637651507 Oct 12, 2018 (152)
82 ILLUMINA ss3638747285 Oct 12, 2018 (152)
83 ILLUMINA ss3640868565 Oct 12, 2018 (152)
84 ILLUMINA ss3640868566 Oct 12, 2018 (152)
85 ILLUMINA ss3643679165 Oct 12, 2018 (152)
86 ILLUMINA ss3644964279 Oct 12, 2018 (152)
87 ILLUMINA ss3644964280 Oct 12, 2018 (152)
88 ILLUMINA ss3653365275 Oct 12, 2018 (152)
89 ILLUMINA ss3653365276 Oct 12, 2018 (152)
90 ILLUMINA ss3654194399 Oct 12, 2018 (152)
91 ILLUMINA ss3726518828 Jul 13, 2019 (153)
92 ILLUMINA ss3744302585 Jul 13, 2019 (153)
93 ILLUMINA ss3744577630 Jul 13, 2019 (153)
94 ILLUMINA ss3745461065 Jul 13, 2019 (153)
95 ILLUMINA ss3745461066 Jul 13, 2019 (153)
96 PAGE_CC ss3771427482 Jul 13, 2019 (153)
97 ILLUMINA ss3772953665 Jul 13, 2019 (153)
98 ILLUMINA ss3772953666 Jul 13, 2019 (153)
99 KHV_HUMAN_GENOMES ss3810861611 Jul 13, 2019 (153)
100 EVA ss3824350612 Apr 26, 2020 (154)
101 EVA ss3825736885 Apr 26, 2020 (154)
102 SGDP_PRJ ss3869405006 Apr 26, 2020 (154)
103 1000Genomes NC_000008.10 - 18257704 Oct 12, 2018 (152)
104 Genome-wide autozygosity in Daghestan NC_000008.9 - 18301984 Apr 26, 2020 (154)
105 ExAC NC_000008.10 - 18257704 Oct 12, 2018 (152)
106 gnomAD - Genomes NC_000008.10 - 18257704 Jul 13, 2019 (153)
107 gnomAD - Exomes NC_000008.10 - 18257704 Jul 13, 2019 (153)
108 GO Exome Sequencing Project NC_000008.10 - 18257704 Oct 12, 2018 (152)
109 Genome of the Netherlands Release 5 NC_000008.10 - 18257704 Apr 26, 2020 (154)
110 The PAGE Study NC_000008.11 - 18400194 Jul 13, 2019 (153)
111 SGDP_PRJ NC_000008.10 - 18257704 Apr 26, 2020 (154)
112 TopMed NC_000008.11 - 18400194 Oct 12, 2018 (152)
113 dbGaP Population Frequency Project NC_000008.11 - 18400194 Apr 26, 2020 (154)
114 ClinVar RCV000000762.1 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)
rs4134723 Nov 14, 2002 (109)
rs17126583 Oct 08, 2004 (123)
rs52824535 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
493336, ss115075062, ss164094673, ss480300989, ss485580718, ss1397519432, ss3643679165 NC_000008.9:18301983:G:A NC_000008.11:18400193:G:A (self)
40947074, 9201164, 111847150, 6184537, 808472, 10170871, 21421986, ss223576387, ss342253600, ss480312103, ss481067887, ss482176874, ss484948307, ss490960716, ss491410754, ss534532305, ss536992455, ss560588638, ss778841551, ss780650150, ss780867821, ss781674493, ss782920461, ss783552752, ss783601150, ss783883487, ss832175588, ss834302109, ss836144967, ss985256278, ss1067495860, ss1075326282, ss1328853892, ss1689107810, ss1752722179, ss1752722180, ss1805425817, ss1917826202, ss1946231105, ss1946231106, ss1959092395, ss1959092396, ss2024971335, ss2470822128, ss2634717895, ss2634717896, ss2634717897, ss2711131665, ss2737016609, ss2748005912, ss2863932570, ss2985432609, ss2986074655, ss3022824445, ss3022824446, ss3029637974, ss3625946936, ss3625946937, ss3630009712, ss3630009713, ss3630009714, ss3632618564, ss3632618565, ss3633492978, ss3634219381, ss3635161275, ss3635161276, ss3636898277, ss3637651507, ss3638747285, ss3640868565, ss3640868566, ss3644964279, ss3644964280, ss3653365275, ss3653365276, ss3654194399, ss3744302585, ss3744577630, ss3745461065, ss3745461066, ss3772953665, ss3772953666, ss3824350612, ss3825736885, ss3869405006 NC_000008.10:18257703:G:A NC_000008.11:18400193:G:A (self)
RCV000000762.1, 648951, 384382829, 598489796, ss1505810735, ss2301164529, ss3555514690, ss3726518828, ss3771427482, ss3810861611 NC_000008.11:18400193:G:A NC_000008.11:18400193:G:A (self)
ss2421518, ss24796682, ss66858966, ss69042396, ss70456612, ss74813623, ss76869168, ss86271257, ss120035950, ss159716511, ss410878050 NT_167187.1:6115849:G:A NC_000008.11:18400193:G:A (self)
Help

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

41 citations for rs1801279
PMID Title Author Year Journal
8102597 Genotype/phenotype discordance for human arylamine N-acetyltransferase (NAT2) reveals a new slow-acetylator allele common in African-Americans. Bell DA et al. 1993 Carcinogenesis
9156695 Genotyping of the polymorphic N-acetyltransferase (NAT2*) gene locus in two native African populations. Deloménie C et al. 1996 Pharmacogenetics
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
18268115 Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk. Shin A et al. 2008 Cancer epidemiology, biomarkers & prevention
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
20043821 Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data. Sabbagh A et al. 2009 BMC medical genetics
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
20937634 Cigarette smoking, genetic variants in carcinogen-metabolizing enzymes, and colorectal cancer risk. Cleary SP et al. 2010 American journal of epidemiology
21382071 Altered xanthine oxidase and N-acetyltransferase activity in obese children. Chiney MS et al. 2011 British journal of clinical pharmacology
21494681 Arylamine N-acetyltransferase 2 (NAT2) genetic diversity and traditional subsistence: a worldwide population survey. Sabbagh A et al. 2011 PloS one
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
21878835 Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity. Wang D et al. 2011 Pharmacogenetics and genomics
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
22092036 Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes. Hein DW et al. 2012 Pharmacogenomics
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
22610071 Polymorphisms in carcinogen metabolism enzymes, fish intake, and risk of prostate cancer. Catsburg C et al. 2012 Carcinogenesis
22822096 Red meat and poultry, cooking practices, genetic susceptibility and risk of prostate cancer: results from a multiethnic case-control study. Joshi AD et al. 2012 Carcinogenesis
22970273 The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype. Ruiz JD et al. 2012 PloS one
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
23299405 Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. Fu Z et al. 2013 Carcinogenesis
24892773 PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2. McDonagh EM et al. 2014 Pharmacogenetics and genomics
25355624 Tobacco smoking, polymorphisms in carcinogen metabolism enzyme genes, and risk of localized and advanced prostate cancer: results from the California Collaborative Prostate Cancer Study. Shahabi A et al. 2014 Cancer medicine
25719551 The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms. Gross-Davis CA et al. 2015 International journal of environmental research and public health
25980667 Pharmacogenetics of treatment response in psoriatic arthritis. Jani M et al. 2015 Current rheumatology reports
26445549 Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population. Huang Z et al. 2015 OncoTargets and therapy
26620671 Variation in NAT2 acetylation phenotypes is associated with differences in food-producing subsistence modes and ecoregions in Africa. Podgorná E et al. 2015 BMC evolutionary biology
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
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
27332812 Hepatotoxicity during Treatment for Tuberculosis in People Living with HIV/AIDS. Araújo-Mariz C et al. 2016 PloS one
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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.post557+f76c771