rs2513748080
This variant is located in the GEMIN7 gene.
▶ClinVar annotation
About GEMIN7
The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
View all GEMIN7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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