rs4796042
This is a intron variant variant in the UNC45B gene.
▶Research that mentions this SNP (1)
▶Polymorphism rs2682818 in miR‐618 is associated with colorectal cancer susceptibility in a Han Chinese populationAssociationN=1,762Yuetong Chen et al.(2018)· Cancer Medicine
A case-control study of 878 colorectal cancer patients and 884 controls in a Han Chinese population found that SNP rs2682818 (C>A) in the miR-618 gene was associated with decreased CRC susceptibility. The AA and AC/AA genotypes showed protective effects with OR=0.54 (95% CI=0.37-0.79) and OR=0.82 (95% CI=0.68-0.99), respectively, compared to the CC genotype.
About UNC45B
This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
View all UNC45B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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