SRPRA
SRP receptor subunit alpha
Summary
The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1613078 | 11:126,124,835 | C/A | intron variant | — |
| rs114538197 | 11:126,134,931 | C/T | — | benign |
| rs199983442 | 11:126,134,960 | A/C | — | uncertain significance |
| rs1950780024 | 11:126,134,989 | G/C | — | pathogenic |
| rs775504890 | 11:126,135,003 | G/A | — | uncertain significance |
| rs760553374 | 11:126,135,007 | G/C | — | uncertain significance |
| rs773233317 | 11:126,135,027 | A/G | — | uncertain significance |
| rs2135238481 | 11:126,135,068 | C/T | — | uncertain significance |
| rs367950847 | 11:126,135,214 | G/A | — | likely benign |
| rs753253148 | 11:126,136,411 | T/C | — | uncertain significance |
| rs375608376 | 11:126,136,475 | G/A | — | uncertain significance |
| rs1232944148 | 11:126,136,673 | C/T | — | uncertain significance |
| rs766884357 | 11:126,137,569 | G/A | — | likely benign |
| rs377196682 | 11:126,137,967 | G/C | — | uncertain significance |
| rs370637063 | 11:126,138,622 | G/A | — | likely benign |
| rs779265585 | 11:126,138,646 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.