{{Rsnum
|rsid=1799930
|Gene=NAT2
|Chromosome=8
|position=18400593
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2456
|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 | 11.5 | 35.4 | 53.1
| HCB | 3.7 | 30.9 | 65.4
| JPT | 8.0 | 31.9 | 60.2
| YRI | 5.4 | 38.8 | 55.8
| ASW | 1.8 | 47.4 | 50.9
| CHB | 3.7 | 30.9 | 65.4
| CHD | 5.5 | 41.3 | 53.2
| GIH | 12.9 | 47.5 | 39.6
| LWK | 8.3 | 38.5 | 53.2
| MEX | 1.8 | 28.6 | 69.6
| MKK | 9.0 | 42.9 | 48.1
| TSI | 9.8 | 39.2 | 51.0
| HapMapRevision=28
}}[[rs1799930]] 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. Also known as G590A.

The risk allele for this SNP is [[rs1799930]](A).

{{ neighbor
| rsid = 1799929
| distance = 109
}}
{{ neighbor
| rsid = 1208
| distance = 213
}}

{{PharmGKB
|RSID=rs1799930
|Name_s=NAT2:590G>A, one of 2 varriants comprising NAT2*6A
|Gene_s=NAT2
|Feature=
|Evidence=PubMed ID:19356010
|Annotation=in vitro study; PK: 22-fold reduction in Vmax vs wild type
|Drugs=clonazepam
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165110593
}}

{{PMID Auto
|PMID=20180013
|Title=Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women
}}

{{PMID Auto
|PMID=16369173
|Title=N-acetyltransferase 2 gene polymorphism and presbycusis.
}}

{{PMID Auto
|PMID=17513527
|Title=Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.
|OA=1
}}

{{PharmGKB
|RSID=rs1799930
|Name_s=NAT2:ARG197GLN;590G>A; part of *5E,*5J,*6(A-E) alleles and*14D.  A allele defines "M2" (older nomenclature).
|Gene_s=NAT2
|Feature=
|Evidence=PubMed ID:10667461; PubMed ID:10971207; PubMed ID:17434923; PubMed ID:2068113; PubMed ID:7668286; PubMed ID:7920692; Web Resource:http://louisville.edu/medschool/pharmacology/Human.NAT2.pdf
|Annotation=Homozygous A allele is slow acetylator phenotype (altered rates of metabolism of arylamines). May be associated with higher risk for bladder cancer and lower risk for colorectal cancer.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145098
}}

{{omim
|id=612182
|rsnum=1799930
|variant=0001
}}

{{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=1799930
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=18258103
|CHROM=8
|GMAF=0.245
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05036800000015051f110100
|GENEINFO=NAT2:10
|GENE_NAME=NAT2
|GENE_ID=10
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.18258103G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=612182.0001
|CLNSIG=6
|CLNCUI=C0878587
|CLNDBN=Slow acetylator due to N-acetyltransferase enzyme variant
|Disease=Slow acetylator due to N-acetyltransferase enzyme variant
|CLNACC=RCV000000758.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7544; 0.2456
|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=17160896
|Title=Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
|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=18252219
|Title=A powerful and flexible multilocus association test for quantitative traits.
|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=18298806
|Title=Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
|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=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|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=19390575
|Title=Lung cancer susceptibility model based on age, family history and genetic variants.
|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=21324488
|Title=Single nucleotide polymorphisms in tobacco metabolism and DNA repair genes and prognosis in resected non-small-cell lung cancer.
}}

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

{{PMID Auto
|PMID=22336957
|Title=Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs.
}}

{{PMID Auto
|PMID=22970273
|Title=The Differential Effect of NAT2 Variant Alleles Permits Refinement in Phenotype Inference and Identifies a Very Slow Acetylation Genotype
|OA=1
}}

{{GET Evidence
|gene=NAT2
|aa_change=Arg197Gln
|aa_change_short=R197Q
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1799930
|overall_frequency_n=3031
|overall_frequency_d=10758
|overall_frequency=0.281744
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=28
|n_articles=1
|n_articles_annotated=1
|in_omim=Y
|in_pharmgkb=Y
|nblosum100=0
|autoscore=2
|webscore=N
|summary_short=This allele characterizes the NAT2*6A haplotype which causes slow acetylation.
}}

{{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=24928356
|Title=Synergism between the N-acetyltransferase 2 gene and oxidant exposure increases the risk of idiopathic male infertility
}}

{{PMID Auto
|PMID=25005845
|Title=N-Acetyltransferase 2 (NAT2) gene polymorphism and exposure to smoking in lung cancer of Chinese males
}}

{{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 | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}