{{Rsnum
|rsid=1801280
|Gene=NAT2
|Chromosome=8
|position=18400344
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2952
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NAT2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 18.5 | 50.8 | 30.8
| HCB | 0.0 | 4.4 | 95.6
| JPT | 0.0 | 6.8 | 93.2
| YRI | 12.7 | 31.7 | 55.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 4.4 | 95.6
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[rs1801280]] 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 [[rs1801280]](C).
{{ neighbor
| rsid = 1041983
| distance = 59
}}
{{ neighbor
| rsid = 1799929
| distance = 140
}}

{{Venter SNP
|rsid=1801280
|allele=C
|frequency=0.442
|uid=1103652262093
|type=heterozygous_SNP
|hugo=NAT2
|ensembl gene=ENSG00000156006
|ensembl transcript=ENST00000286479
|sift=AFFECT FUNCTION
|disease=N-acetylation polymorphism is determined by a low or high NAT activity in liver, it has been implicated in the action and toxicity of amine-containing drugs, and in the susceptibility to bladder cancer and systemic lupus erythematosus. This isozyme is responsible for this polymorphism.
}}

{{PharmGKB
|RSID=rs1801280
|Name_s=NAT2:341T>C, 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=PA165110589
}}

{{PharmGKB
|RSID=rs1801280
|Name_s=NAT2:ILE114THR; NAT2:341T>C; part of NAT2*5(A-J) named alleles and *14C and *14F
|Gene_s=NAT2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:10667461; PubMed ID:10971207; PubMed ID:12351146; PubMed ID:17434923; PubMed ID:2068113
|Annotation=Homozygotes for the C allele are thought to be slowest acetylator phenotype (altered rates of metabolism of arylamines) of the NAT2 phenotypes, though results from one study indicated requirement for an additional SNP C481T;this is the most strongly associated of the NAT2 polymorphisms with risk of bladder cancer and with adverse drug reactions.
|Drugs=
|Drug Classes=
|Diseases=Urinary Bladder Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161145094
}}

{{omim
|id=612182
|rsnum=1801280
|variant=0002
}}

{{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=1801280
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=18257854
|CHROM=8
|GMAF=0.2967
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05037800000015051f110101
|GENEINFO=NAT2:10
|GENE_NAME=NAT2
|GENE_ID=10
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.18257854T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612182.0002
|CLNSIG=6
|CLNCUI=C0878587
|CLNDBN=Slow acetylator due to N-acetyltransferase enzyme variant
|Disease=Slow acetylator due to N-acetyltransferase enzyme variant
|CLNACC=RCV000000759.1
|Tags=PM;TPA;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7048; 0.2952
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1827377:243400:425079005
|COMMON=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=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=20043821
|Title=Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.
|OA=1
}}

{{PMID Auto
|PMID=21750470
|Title=Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype.
}}

{{PMID Auto
|PMID=22200898
|Title=Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).
}}

{{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=22414877
|Title=Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples.
|OA=1
}}

{{GET Evidence
|gene=NAT2
|aa_change=Ile114Thr
|aa_change_short=I114T
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1801280
|overall_frequency_n=4283
|overall_frequency_d=10758
|overall_frequency=0.398122
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|in_omim=Y
|in_pharmgkb=Y
|nblosum100=3
|autoscore=2
|webscore=N
}}

{{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=23404349
|Title=Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms.
}}

{{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}}