SF3A1 Chromosome 22
Splicing factor 3a subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
"U2 small nuclear ribonucleoprotein|SF3a complex"
Locus Type
gene with protein product
Location
22q12.2
Ensembl
ENSG00000099995
Associated Conditions (3)
Malignant lymphoma
large B-cell
diffuse
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2518170070 | Health Risk | Pathogenic | Malignant lymphoma, large B-cell, diffuse |