rs1475034
This is a downstream gene variant variant in the ACTN1 gene.
▶Research that mentions this SNP (1)
▶Fine mapping of 14q24.1 breast cancer susceptibility locusAssociationN=11,268Phoebe Lee et al.(2012)· Human Genetics
This fine-mapping study analyzed the 14q24.1 breast cancer susceptibility locus using imputation in 5,692 cases and 5,576 controls from the CGEMS GWAS. The SNP rs999737 (OR=0.87, 95% CI=0.81-0.92, p=8.23×10⁻⁶) remained the strongest tag SNP for common variants in the RAD51L1 region, with no evidence for independent additional signals. Single-marker and haplotype analyses confirmed rs999737 as the optimal marker for this locus.
About ACTN1
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all ACTN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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