SYNGR1
synaptogyrin 1
Summary
This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780574763 | 22:39,746,022 | G/C | — | uncertain significance |
| rs200345991 | 22:39,746,075 | G/A | — | likely benign |
| rs2267407 | 22:39,747,050 | G/C | — | — |
| rs909685 | 22:39,747,671 | T/A | regulatory region variant | — |
| rs137699 | 22:39,748,854 | A/G | intron variant | — |
| rs137702 | 22:39,750,158 | T/C | intron variant | — |
| rs186680008 | 22:39,754,367 | A/C | intron variant | — |
| rs2049985 | 22:39,756,650 | G/T | — | — |
| rs2517871632 | 22:39,770,328 | C/T | — | uncertain significance |
| rs2517871670 | 22:39,770,340 | T/C | — | uncertain significance |
| rs762377335 | 22:39,770,350 | C/G | — | uncertain significance |
| rs759071446 | 22:39,770,354 | A/G | — | uncertain significance |
| rs1326959334 | 22:39,770,415 | C/G | — | uncertain significance |
| rs375288974 | 22:39,770,435 | G/A | — | uncertain significance |
| rs138433500 | 22:39,770,441 | G/A | — | uncertain significance |
| rs778231606 | 22:39,770,453 | G/A | — | uncertain significance |
| rs1475542001 | 22:39,770,522 | C/T | — | uncertain significance |
| rs746495829 | 22:39,770,552 | G/T | — | uncertain significance |
| rs370242194 | 22:39,772,143 | G/A | — | uncertain significance |
| rs761214934 | 22:39,772,152 | G/T | — | uncertain significance |
| rs749936409 | 22:39,772,155 | G/A | — | uncertain significance |
| rs193920982 | 22:39,773,600 | C/T | — | uncertain significance |
| rs6519190 | 22:39,774,525 | A/C | — | — |
| rs1925505766 | 22:39,777,778 | C/A | — | uncertain significance |
| rs2517882101 | 22:39,777,784 | C/G | — | uncertain significance |
| rs193159582 | 22:39,777,788 | G/C | — | uncertain significance |
| rs2517882198 | 22:39,777,834 | A/T | — | uncertain significance |
| rs150311775 | 22:39,777,849 | G/C | — | uncertain significance |
| rs899242914 | 22:39,777,881 | G/A | — | uncertain significance |
| rs1427348713 | 22:39,777,894 | A/G | — | uncertain significance |
| rs754528872 | 22:39,777,906 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.