Variant: rs1085307096

present in Gene: SLCO2A1 present in Chromosome: 3 Position on Chromosome: 133947261 Alleles of this Variant: GGTAGACTTCGG/-

rs1085307096 in SLCO2A1 gene and HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 PMID 22906430 2012 Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.

PMID 24929850 2014 The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.