Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs34612342

Hard Link
rs34612342 is a snp on gene MUTYH (mutY homolog (E. coli))

GeneMUTYH Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation 494A>G, Y165C, Tyr165Cys Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense mutation with significantly reduced MUTYH protein stability.
Gene Function
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.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs5483 () | rs75932628 (TREM2) | rs80357906 (BRCA1) | rs28897672 (BRCA1) | rs2282679 (GC) | rs10741657 (CYP2R1) | rs7775228 (CHR6-LOC32658079) | rs7454108 (CHR6-LOC32713706) | rs2395182 (HLA-DRA) | rs1611131 () | rs2073837 ()

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs1801181 (CBS) | rs20541 (IL13) | rs6025 (F5) | rs2569191 (CD14) | rs4680 (COMT) | rs2235544 (DIO1) | rs2075252 (LRP2) | rs2187668 (HLA-DQA1)








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