SF3A1
splicing factor 3a subunit 1
Summary
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]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1569170092 | 22:30,733,694 | T/C | — | uncertain significance |
| rs1931116850 | 22:30,733,739 | T/C | — | uncertain significance |
| rs777399607 | 22:30,733,847 | G/A | — | uncertain significance |
| rs1931160767 | 22:30,734,818 | C/T | — | uncertain significance |
| rs561885143 | 22:30,734,848 | G/A | — | uncertain significance |
| rs145469758 | 22:30,734,869 | T/C | — | uncertain significance |
| rs2518170081 | 22:30,734,887 | A/C | — | uncertain significance |
| rs550212420 | 22:30,738,190 | T/G | — | uncertain significance |
| rs770722220 | 22:30,738,197 | T/C | — | uncertain significance |
| rs746140763 | 22:30,738,832 | T/G | — | uncertain significance |
| rs769548854 | 22:30,738,834 | A/G | — | uncertain significance |
| rs1234027070 | 22:30,738,850 | C/A | — | uncertain significance |
| rs118143968 | 22:30,740,142 | T/C | intron variant | — |
| rs114214629 | 22:30,740,914 | C/G | — | benign |
| rs2518178346 | 22:30,740,998 | T/C | — | uncertain significance |
| rs1486504992 | 22:30,742,407 | T/C | — | uncertain significance |
| rs141721771 | 22:30,742,468 | T/A | — | uncertain significance |
| rs11912350 | 22:30,748,027 | T/C | upstream gene variant | — |
| rs148655562 | 22:30,749,048 | T/G | — | uncertain significance |
| rs4820834 | 22:30,751,627 | G/A | upstream gene variant | — |
| rs1277272084 | 22:30,752,744 | G/A | — | uncertain significance |
| rs1375663376 | 22:30,752,753 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.