rs755682786
This variant is located in the SPPL2A gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout SPPL2A
This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
View all SPPL2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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