rs1801280
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1801280(C;C) |
| Make rs1801280(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 18400344 |
| Gene | NAT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801280 |
| dbSNP (classic) | rs1801280 |
| ClinGen | rs1801280 |
| ebi | rs1801280 |
| HLI | rs1801280 |
| Exac | rs1801280 |
| Gnomad | rs1801280 |
| Varsome | rs1801280 |
| LitVar | rs1801280 |
| Map | rs1801280 |
| PheGenI | rs1801280 |
| Biobank | rs1801280 |
| 1000 genomes | rs1801280 |
| hgdp | rs1801280 |
| ensembl | rs1801280 |
| geneview | rs1801280 |
| scholar | rs1801280 |
| rs1801280 | |
| pharmgkb | rs1801280 |
| gwascentral | rs1801280 |
| openSNP | rs1801280 |
| 23andMe | rs1801280 |
| SNPshot | rs1801280 |
| SNPdbe | rs1801280 |
| MSV3d | rs1801280 |
| GWAS Ctlg | rs1801280 |
| GMAF | 0.2952 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1801280, also known as T341C, 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 allele associated with slow NAT2 metabolization for this SNP is rs1801280(C). Genosets gs154 and gs156 evaluate predicated NAT2 metabolizer phenotype based on rs1041983 and rs1801280.[PMID 21750470]
[PMID 22092036
] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes
| ClinVar | |
|---|---|
| Risk | rs1801280(C;C) |
| Alt | rs1801280(C;C) |
| Reference | Rs1801280(T;T) |
| Significance | Drug-response |
| Disease | Slow acetylator due to N-acetyltransferase enzyme variant |
| Variation | info |
| Gene | NAT2 |
| CLNDBN | Slow acetylator due to N-acetyltransferase enzyme variant |
| Reversed | 0 |
| HGVS | NC_000008.10:g.18257854T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000759.1, |
[PMID 16112301] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.
[PMID 16416399] Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.
[PMID 16847422] Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma.
[PMID 18268115] Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk.
[PMID 18298806] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18680467] Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.
[PMID 18768514] Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.
[PMID 18773084] Multiple advantageous amino acid variants in the NAT2 gene in human populations.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[PMID 20043821] Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.
[PMID 21750470] 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 22200898] Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).
[PMID 22336957] Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs.
[PMID 22414877] Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples.
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23404349] Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms.
[PMID 26445549] Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population
