rs1183197817
This variant is located in the PITPNB gene.
▶ClinVar annotation
About PITPNB
This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
View all PITPNB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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