rs592190
This variant is located in the HMBS 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 HMBS
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
View all HMBS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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