From SNPedia
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).
| ? | (C;C) (C;T) (T;T) |
|---|
 |
| Venter snp
|
| Source
| plos
|
| Gene
| NAT2
|
| allele
| C
|
| frequency
| 0.442
|
| sift
| AFFECT FUNCTION
|
| HuRef
| 1103652262093
|
| Disease Association
| 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 | PA161145094 |
| Name | NAT2:ILE114THR, NAT2:341T>C, part of NAT2*5(A-J) named alleles and *14C and *14F |
| 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. |
| Gene | NAT2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:10667461; PubMed ID:10971207; PubMed ID:12351146; PubMed ID:17434923; PubMed ID:2068113 |
| Drugs | |
| Diseases | Urinary Bladder Neoplasms |
| Curation Level | Curated |
