rs1254629091

This variant is located in the PTDSS2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About PTDSS2

The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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