rs550212420

This variant is located in the SF3A1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SF3A1

This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]

View all SF3A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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