SNAP47
synaptosome associated protein 47
Summary
Predicted to enable SNAP receptor activity and syntaxin binding activity. Predicted to be involved in synaptic vesicle fusion to presynaptic active zone membrane and synaptic vesicle priming. Predicted to act upstream of or within long-term synaptic potentiation. Located in BLOC-1 complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1176640384 | 1:227,923,115 | G/A | — | uncertain significance |
| rs751779799 | 1:227,923,117 | G/C | — | uncertain significance |
| rs754790085 | 1:227,923,132 | C/T | — | uncertain significance |
| rs778735295 | 1:227,923,139 | G/A | — | uncertain significance |
| rs770422762 | 1:227,923,154 | G/A | — | uncertain significance |
| rs2527559845 | 1:227,923,160 | G/A | — | uncertain significance |
| rs762036309 | 1:227,923,171 | C/G | — | uncertain significance |
| rs11588850 | 1:227,927,242 | A/G | upstream gene variant | — |
| rs373320394 | 1:227,935,416 | G/C | — | uncertain significance |
| rs150812885 | 1:227,935,421 | C/T | — | uncertain significance |
| rs776969353 | 1:227,935,432 | G/A | — | uncertain significance |
| rs1662063264 | 1:227,935,472 | G/A | — | uncertain significance |
| rs946246198 | 1:227,935,478 | A/G | — | uncertain significance |
| rs1160531477 | 1:227,935,585 | C/A | — | uncertain significance |
| rs200793543 | 1:227,935,610 | A/G | — | uncertain significance |
| rs138895226 | 1:227,935,639 | A/G | — | uncertain significance |
| rs779151249 | 1:227,935,688 | G/A | — | likely benign |
| rs746939605 | 1:227,935,697 | G/A | — | uncertain significance |
| rs140772937 | 1:227,935,771 | G/C | — | uncertain significance |
| rs200031076 | 1:227,935,790 | G/A | — | uncertain significance |
| rs1209967041 | 1:227,935,795 | G/A | — | likely benign |
| rs558172022 | 1:227,935,831 | C/T | — | uncertain significance |
| rs748998839 | 1:227,935,885 | G/A | — | likely benign |
| rs774765340 | 1:227,946,753 | G/C | — | uncertain significance |
| rs1234789699 | 1:227,946,865 | T/C | — | uncertain significance |
| rs765107254 | 1:227,946,878 | C/T | — | uncertain significance |
| rs371651453 | 1:227,947,010 | G/A | — | uncertain significance |
| rs143073539 | 1:227,947,039 | C/T | — | uncertain significance |
| rs374979004 | 1:227,947,040 | G/A | — | uncertain significance |
| rs1662919614 | 1:227,947,093 | A/C | — | uncertain significance |
| rs369444213 | 1:227,947,102 | A/G | — | uncertain significance |
| rs765951790 | 1:227,947,105 | G/A | — | uncertain significance |
| rs200503677 | 1:227,947,138 | G/A | — | likely benign |
| rs2527686510 | 1:227,947,153 | C/A | — | uncertain significance |
| rs377514212 | 1:227,947,174 | G/T | — | uncertain significance |
| rs1362958459 | 1:227,954,695 | C/A | — | uncertain significance |
| rs771375297 | 1:227,954,738 | C/T | — | uncertain significance |
| rs369891257 | 1:227,968,327 | A/G | — | uncertain significance |
| rs1174211505 | 1:227,968,352 | G/A | — | uncertain significance |
| rs759368251 | 1:227,968,354 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.