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rs1801280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1801280(C;C)
Make rs1801280(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position18400344
GeneNAT2
is asnp
is mentioned by
dbSNPrs1801280
ebirs1801280
HLIrs1801280
Exacrs1801280
Varsomers1801280
Maprs1801280
PheGenIrs1801280
hapmaprs1801280
1000 genomesrs1801280
hgdprs1801280
ensemblrs1801280
gopubmedrs1801280
geneviewrs1801280
scholarrs1801280
googlers1801280
pharmgkbrs1801280
gwascentralrs1801280
openSNPrs1801280
23andMers1801280
23andMe allrs1801280
SNP Nexus

SNPshotrs1801280
SNPdbers1801280
MSV3drs1801280
GWAS Ctlgrs1801280
GMAF0.2952
Max Magnitude0
? (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]

Neighborrs1041983
Distance59
Neighborrs1799929
Distance140


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.





OMIM612182
Desc
Variant0002
Relatedalso
[PMID 22092036OA-icon.png] 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 16112301OA-icon.png] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.


[PMID 16416399OA-icon.png] Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.


[PMID 16847422OA-icon.png] Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma.


[PMID 18268115OA-icon.png] Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk.


[PMID 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18680467OA-icon.png] Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.


[PMID 18768514OA-icon.png] Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.


[PMID 18773084OA-icon.png] Multiple advantageous amino acid variants in the NAT2 gene in human populations.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.


[PMID 20043821OA-icon.png] 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 22414877OA-icon.png] Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples.


GET Evidence
NAT2-I114T
aa_change Ile114Thr
aa_change_short I114T
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.398122
summary



[PMID 23175176OA-icon.png] 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 26445549OA-icon.png] Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population