{{Rsnum
|rsid=1799931
|Gene=NAT2
|Chromosome=8
|position=18400860
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.07117
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NAT2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 2.9 | 33.1 | 64.0
| JPT | 2.7 | 16.2 | 81.1
| YRI | 0.0 | 6.1 | 93.9
| ASW | 0.0 | 10.5 | 89.5
| CHB | 2.9 | 33.1 | 64.0
| CHD | 2.8 | 14.7 | 82.6
| GIH | 0.0 | 11.9 | 88.1
| LWK | 0.0 | 3.6 | 96.4
| MEX | 0.0 | 34.5 | 65.5
| MKK | 0.6 | 9.6 | 89.7
| TSI | 0.0 | 3.0 | 97.0
| HapMapRevision=28
}}[[rs1799931]] is a SNP in the [[NAT2]] gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferase, but which [[NAT2]] variant depends on which other [[NAT2]] SNPs were also inherited. See the discussion of the [[NAT2]] gene for a more complete explanation.

The risk allele for this SNP is [[rs1799931]](A).

{{ neighbor
| rsid = 1208
| distance = 54
}}

{{PharmGKB
|RSID=rs1799931
|Name_s=NAT2:rs1799931 A>G; NM_000015.2:c.857G>A; NP_000006.2:p.Gly286Glu
|Gene_s=NAT2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:20038957
|Annotation=Risk or phenotype-associated allele: G Phenotype: The NAT2:rs1799931 G variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.003 Type of association: CO; TOX
|Drugs=docetaxel; thalidomide
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165111538
}}

{{PharmGKB
|RSID=rs1799931
|Name_s=NAT2:857G>A; NAT2:GLY286GLU; defines NAT2*7A; included in NAT2*7B. A allele defines "M3"(older nomenclature).
|Gene_s=NAT2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:10667461; PubMed ID:10971207; PubMed ID:17434923; PubMed ID:7668286; PubMed ID:7920692; PubMed ID:8460648
|Annotation=Important for rapid/slow acetylator status; phenotype may be substrate and concentration dependent.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145099
}}

{{omim
|id=612182
|rsnum=1799931
|variant=0004
}}

{{PMID Auto
|PMID=22092036
|Title=Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes
|OA=1
}}

{{ClinVar
|rsid=1799931
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=18258370
|CHROM=8
|GMAF=0.071
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050378000000150517110100
|GENEINFO=NAT2:10
|GENE_NAME=NAT2
|GENE_ID=10
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.18258370G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=612182.0004
|CLNSIG=6
|CLNCUI=C0878587
|CLNDBN=Slow acetylator due to N-acetyltransferase enzyme variant
|Disease=Slow acetylator due to N-acetyltransferase enzyme variant
|CLNACC=RCV000000761.1
|Tags=PM;TPA;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9288; 0.07117
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1827377:243400:425079005
|COMMON=1
}}

{{PMID Auto
|PMID=14724163
|Title=Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.
|OA=1
}}

{{PMID Auto
|PMID=16112301
|Title=NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.
|OA=1
}}

{{PMID Auto
|PMID=16416399
|Title=Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.
|OA=1
}}

{{PMID Auto
|PMID=16847422
|Title=Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=17335581
|Title=Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=18268115
|Title=Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk.
|OA=1
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18680467
|Title=Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.
|OA=1
}}

{{PMID Auto
|PMID=18768514
|Title=Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=18773084
|Title=Multiple advantageous amino acid variants in the NAT2 gene in human populations.
|OA=1
}}

{{PMID Auto
|PMID=18990750
|Title=Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19766908
|Title=Association of NAT2 gene polymorphisms with susceptibility to esophageal and gastric cancers in the Kashmir Valley.
}}

{{PMID Auto
|PMID=20043821
|Title=Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.
|OA=1
}}

{{PMID Auto
|PMID=22137356
|Title=An unlikely role for the NAT2 genotypes and haplotypes in the oral cancer of south Indians.
}}

{{PMID Auto
|PMID=1968463
|Title=Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver.
}}

{{PMID Auto
|PMID=23072573
|Title=Multiplex Allele-Specific Amplification from Whole Blood for Detecting Multiple Polymorphisms Simultaneously
|OA=1
}}

{{GET Evidence
|gene=NAT2
|aa_change=Gly286Glu
|aa_change_short=G286E
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1799931
|overall_frequency_n=247
|overall_frequency_d=10654
|overall_frequency=0.0231838
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=1
|n_articles_annotated=1
|in_omim=Y
|in_pharmgkb=Y
|nblosum100=6
|autoscore=3
|webscore=N
|summary_short=This variant represents the NAT2*7B haplotytype.
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=25017831
|Title=N-acetyltransferase and cytochrome P450 2E1 gene polymorphisms and susceptibility to antituberculosis drug hepatotoxicity in an Indian population
}}

{{PMID Auto
|PMID=25081676
|Title=N-Acetyltransferase 2 Gene Polymorphisms are Associated with Susceptibility to Cancer: a Meta-analysis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}