Rs1041983
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1041983 |
| hapmap | rs1041983 |
| hgdp | rs1041983 |
| ensembl | rs1041983 |
| gopubmed | rs1041983 |
| scholar | rs1041983 |
| rs1041983 | |
| pharmgkb | rs1041983 |
| hgvbaseg2p | rs1041983 |
| medrefsnp | rs1041983 |
| 23andMe | rs1041983 |
| SNP Nexus |
| Gene | NAT2 |
| Chromosome | 8 |
| Orientation | plus |
| Position | 18302074 |
| Genotype | Effect |
|---|---|
| rs1041983(C;C) | |
| rs1041983(C;T)* | ? |
| rs1041983(T;T)* | ? |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1041983(C;C) | 00 |
rs1041983 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 rs1041983(T).
| Neighbor | rs1801279 |
| Distance | 91 |
| Neighbor | rs1801280 |
| Distance | 59 |
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
| PharmGKB | PA161145839 |
| Name | NAT2:282C>T |
| Annotation | May be important for rapid vs. slow acetylator phenotype. Historically, homozygous T allele has been defined as rapid acetylator phenotype, but there is conflicting evidence. |
| Gene | NAT2 |
| Featue | |
| Evidence | PubMed ID:17434923; Web Resource:http://louisville.edu/medschool/pharmacology/Human.NAT2.pdf |
| Drugs | |
| Diseases | |
| Curation Level | Curated |
