rs200783795

This variant is located in the SPPL2C gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SPPL2C

Enables protein homodimerization activity. Predicted to be involved in several processes, including acrosome assembly; fusion of sperm to egg plasma membrane involved in single fertilization; and membrane protein intracellular domain proteolysis. Located in cytoplasmic side of endoplasmic reticulum membrane and lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025]

View all SPPL2C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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