rs951952990

This variant is located in the SPPL2A gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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