SF3A3
splicing factor 3a subunit 3
Summary
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]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3932027 | 1:38,423,055 | C/T | — | — |
| rs28585598 | 1:38,426,354 | G/C | — | — |
| rs2526175250 | 1:38,435,388 | T/C | — | uncertain significance |
| rs147250301 | 1:38,437,673 | G/A | intron variant | — |
| rs1475746388 | 1:38,442,558 | C/T | — | uncertain significance |
| rs182702407 | 1:38,444,394 | C/G | — | uncertain significance |
| rs139118975 | 1:38,445,183 | G/T | — | uncertain significance |
| rs918764397 | 1:38,446,282 | C/A | — | likely benign |
| rs12569027 | 1:38,449,163 | C/G | — | — |
| rs11210866 | 1:38,449,565 | T/C | intron variant | — |
| rs1216195224 | 1:38,449,878 | T/C | — | uncertain significance |
| rs756075689 | 1:38,449,893 | T/C | — | uncertain significance |
| rs374095826 | 1:38,450,405 | C/T | — | uncertain significance |
| rs2526226861 | 1:38,450,451 | T/G | — | uncertain significance |
| rs139368395 | 1:38,453,330 | T/C | — | uncertain significance |
| rs2526236562 | 1:38,453,463 | T/C | — | uncertain significance |
| rs2526236639 | 1:38,453,480 | C/G | — | uncertain significance |
| rs774759170 | 1:38,455,251 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.