{{Rsnum
|rsid=1208
|Gene=NAT2
|Chromosome=8
|position=18400806
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3145
|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 | 38.1 | 45.1 | 16.8
| HCB | 94.9 | 5.1 | 0.0
| JPT | 94.7 | 5.3 | 0.0
| YRI | 38.1 | 49.7 | 12.2
| ASW | 43.9 | 40.4 | 15.8
| CHB | 94.9 | 5.1 | 0.0
| CHD | 89.9 | 8.3 | 1.8
| GIH | 44.6 | 41.6 | 13.9
| LWK | 31.8 | 42.7 | 25.5
| MEX | 32.8 | 44.8 | 22.4
| MKK | 22.9 | 52.9 | 24.2
| TSI | 31.4 | 48.0 | 20.6
| HapMapRevision=28
}}[[rs1208]] 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 [[rs1208]](G).

{{ neighbor
| rsid = 1799930
| distance = 213
}}
{{ neighbor
| rsid = 1799931
| distance = 54
}}

{{PharmGKB
|RSID=rs1208
|Name_s=NAT2:803A>G, one of 3 variants comprising NAT2*5B
|Gene_s=NAT2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19356010
|Annotation=in vitro study; PK: 20-fold reduction in Vmax vs wild type
|Drugs=clonazepam
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165110591
}}

{{PharmGKB
|RSID=rs1208
|Name_s=NAT2:LYS268ARG; NAT2:803A>G; defines NAT2*12A; part of NAT2*5B, NAT2*5C, NAT2*5F, NAT2*5G, NAT2*5H, NAT2*5I, NAT2*6C, NAT2*12B, NAT2*12C, NAT2*12D, NAT2*14C, NAT2*14E, NAT2*14F, NAT2*14G
|Gene_s=NAT2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15558239; PubMed ID:17434923; PubMed ID:7668286; Web Resource:http://louisville.edu/medschool/pharmacology/Human.NAT2.pdf
|Annotation=Important for acetylator phenotype (altered rates of metabolism of arylamines), but which allele is associated with rapid/slow is controversial.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145840
}}

{{omim
|id=612182
|rsnum=1208
|variant=0003
}}

{{PMID Auto
|PMID=21989592
|Title=Interactions of cigarette smoking with NAT2 polymorphisms impact rheumatoid arthritis risk in African Americans
|OA=1
}}

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

{{PMID Auto
|PMID=20459474
|Title=Can we predict top-level sports performance in power vs endurance events? A genetic approach
}}

{{ClinVar
|rsid=1208
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=18258316
|CHROM=8
|GMAF=0.3164
|dbSNPBuildID=36
|SSR=0
|SAO=1
|VP=0x05037800000015051f110100
|GENEINFO=NAT2:10
|GENE_NAME=NAT2
|GENE_ID=10
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.18258316G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612182.0003
|CLNSIG=6
|CLNCUI=C0878587
|CLNDBN=Slow acetylator due to N-acetyltransferase enzyme variant
|Disease=Slow acetylator due to N-acetyltransferase enzyme variant
|CLNACC=RCV000000760.1
|Tags=PM;TPA;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.3145; 0.6855
|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=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18664443
|Title=Unraveling ambiguous NAT2 genotyping data.
}}

{{PMID Auto
|PMID=18680467
|Title=Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.
|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=20043821
|Title=Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.
|OA=1
}}

{{PMID Auto
|PMID=2068113
|Title=Diverse point mutations in the human gene for polymorphic N-acetyltransferase.
|OA=1
}}

{{PMID Auto
|PMID=6721992
|Title=A simple test for acetylator phenotype using caffeine.
|OA=1
}}

{{PMID Auto
|PMID=8807666
|Title=NAT2*12A (803A-->G) codes for rapid arylamine n-acetylation in humans.
}}

{{GET Evidence
|gene=NAT2
|aa_change=Arg268Lys
|aa_change_short=R268K
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1208
|overall_frequency_n=6249
|overall_frequency_d=10756
|overall_frequency=0.580978
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=73
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|nblosum100=-3
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24939416
|Title=CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}