SNPH
syntaphilin
Summary
Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs551568315 | 20:1,250,891 | A/T | — | — |
| rs185176545 | 20:1,272,099 | T/C | regulatory region variant | — |
| rs146181445 | 20:1,277,890 | C/T | — | uncertain significance |
| rs368468541 | 20:1,281,231 | A/T | — | uncertain significance |
| rs761822931 | 20:1,281,341 | C/A | — | uncertain significance |
| rs767145769 | 20:1,285,661 | G/C | — | uncertain significance |
| rs2514709479 | 20:1,285,688 | A/C | — | uncertain significance |
| rs978277873 | 20:1,285,691 | G/A | — | uncertain significance |
| rs544589713 | 20:1,285,925 | G/A | — | uncertain significance |
| rs141041990 | 20:1,285,961 | G/A | — | uncertain significance |
| rs2514711560 | 20:1,286,004 | T/C | — | uncertain significance |
| rs144877787 | 20:1,286,088 | C/A | — | uncertain significance |
| rs142776744 | 20:1,286,138 | A/T | — | uncertain significance |
| rs151069955 | 20:1,286,147 | C/T | — | uncertain significance |
| rs2514713146 | 20:1,286,256 | G/A | — | uncertain significance |
| rs770851087 | 20:1,286,372 | C/T | — | uncertain significance |
| rs183333437 | 20:1,286,403 | C/T | — | uncertain significance |
| rs992266617 | 20:1,286,467 | G/C | — | uncertain significance |
| rs377293641 | 20:1,286,529 | C/T | — | uncertain significance |
| rs1349076344 | 20:1,286,672 | C/A | — | uncertain significance |
| rs1383712976 | 20:1,286,681 | G/A | — | uncertain significance |
| rs200425562 | 20:1,286,685 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.