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rs1041983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs1041983(C;T)
Make rs1041983(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position18400285
GeneNAT2
is asnp
is mentioned by
dbSNPrs1041983
ebirs1041983
HLIrs1041983
Exacrs1041983
Varsomers1041983
Maprs1041983
PheGenIrs1041983
hapmaprs1041983
1000 genomesrs1041983
hgdprs1041983
ensemblrs1041983
gopubmedrs1041983
geneviewrs1041983
scholarrs1041983
googlers1041983
pharmgkbrs1041983
gwascentralrs1041983
openSNPrs1041983
23andMers1041983
23andMe allrs1041983
SNP Nexus

SNPshotrs1041983
SNPdbers1041983
MSV3drs1041983
GWAS Ctlgrs1041983
GMAF0.3572
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs1041983, also known as C282T, 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 rs1041983(T). Genosets gs154 and gs156 evaluate predicated NAT2 metabolizer phenotype based on rs1041983 and rs1801280.[PMID 21750470]

Neighborrs1801279
Distance91
Neighborrs1801280
Distance59
[PMID 22092036OA-icon.png] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes


[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 16400611OA-icon.png] Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.


[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 17335581OA-icon.png] Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus.


[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 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 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 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
rs1041983
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.357408
summary



[PMID 23660777] Association of NAT1 and NAT2 genes with nonsyndromic cleft lip and palate.


[PMID 26409796] N-acetyltransferase 1 and 2 polymorphisms and risk of diabetes mellitus type 2 in a Saudi population


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