rs528286982
This variant is located in the PRPF18 gene.
▶ClinVar annotation
About PRPF18
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]
View all PRPF18 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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