rs11030918
This is a regulatory region variant variant in the RRM1 gene.
▶Research that mentions this SNP (1)
▶Association of Novel Gene Polymorphisms RRM1 −756T>C and −269 C>A With Breast CancerAssociationN=833Dar‐Ren Chen et al.(2014)· Journal of Clinical Laboratory Analysis
Case-control association study of 512 breast cancer patients and 321 healthy controls examining two RRM1 gene polymorphisms. The RRM1 -756T>C (rs11030918) and -269C>A (rs12806698) variants showed no significant association with breast cancer risk, with adjusted odds ratios of 1.20 (95% CI: 0.71-2.04) and 1.10 (95% CI: 0.65-1.86), respectively. No significant associations were found between polymorphisms and clinical pathological markers.
About RRM1
This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
View all RRM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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