rs1062708
This is a protein-altering variant in the RUVBL2 gene.
▶Research that mentions this SNP (1)
▶Identification of common genetic variants that account for transcript isoform variation between human populationsAssociationN=176Zhang W. et al.(2009)· Human Genetics
This study identified 782 differentially spliced probesets between European (CEU) and African (YRI) HapMap populations using exon arrays on 176 lymphoblastoid cell lines. Genome-wide association analysis found that 2,393 local and 419 distant SNPs were significantly associated with alternative splicing patterns (P < 3.18 × 10⁻⁸ after Bonferroni correction), suggesting common genetic variants substantially account for population differences in transcript isoform variation.
About RUVBL2
This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
View all RUVBL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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