rs387907295
This is a variant in the SLCO2A1 gene that changes a cysteine to an phenylalanine.
▶ClinVar annotation
Pathogenic★★★☆
3 submitters3 publicationsHypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2E)
View on ClinVar →About SLCO2A1
This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
View all SLCO2A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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