rs199932988
This variant is located in the SYNJ2 gene.
▶ClinVar annotation
About SYNJ2
The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
View all SYNJ2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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