Hard Linkrs34612342 is a snp on gene
MUTYH (mutY homolog (E. coli))
(transliterated to +)
Minor Allele Frequency
494A>G, Y165C, Tyr165Cys
- (negative/reverse strand)
Missense mutation with significantly reduced MUTYH protein stability.
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene.