SNRPA
small nuclear ribonucleoprotein polypeptide A
Summary
The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1555775207 | 19:41,263,260 | A/G | — | likely benign |
| rs1555775208 | 19:41,263,261 | T/C | — | likely pathogenic |
| rs1555775209 | 19:41,263,263 | T/A | — | likely pathogenic |
| rs373207469 | 19:41,263,303 | G/A | — | uncertain significance |
| rs2230694 | 19:41,263,403 | A/G | — | benign |
| rs2515919367 | 19:41,263,405 | C/G | — | uncertain significance |
| rs373440672 | 19:41,265,034 | C/T | — | — |
| rs138646758 | 19:41,265,356 | C/T | — | benign |
| rs2515921273 | 19:41,265,379 | T/C | — | uncertain significance |
| rs765984414 | 19:41,265,406 | G/A | — | uncertain significance |
| rs754567162 | 19:41,265,411 | C/T | — | uncertain significance |
| rs540507848 | 19:41,265,412 | G/A | — | uncertain significance |
| rs557419180 | 19:41,265,445 | C/T | — | uncertain significance |
| rs762398926 | 19:41,265,471 | G/A | — | uncertain significance |
| rs1008551715 | 19:41,265,475 | G/T | — | uncertain significance |
| rs2082923055 | 19:41,265,493 | G/C | — | uncertain significance |
| rs2607412 | 19:41,268,243 | A/T | — | — |
| rs768970890 | 19:41,268,816 | C/T | — | uncertain significance |
| rs773592729 | 19:41,268,829 | G/A | — | likely benign |
| rs868113155 | 19:41,268,884 | A/G | — | uncertain significance |
| rs764013546 | 19:41,269,495 | T/G | — | uncertain significance |
| rs776580160 | 19:41,270,946 | C/T | — | likely benign |
| rs1426663952 | 19:41,270,991 | G/T | — | uncertain significance |
| rs142041325 | 19:41,271,042 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.