rs3809125
This variant is located in the MIP gene.
▶ClinVar annotation
▶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 MIP
Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]
View all MIP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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