rs774759170

This variant is located in the SF3A3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SF3A3

This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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