| Entrez Gene ID | 9900 |
|---|---|
| Official Gene Symbol | SV2A (GeneCards) |
| Full name | synaptic vesicle glycoprotein 2A |
| Location | 1q21.2 |
| Other ids | Vega : OTTHUMG00000012209 MIM : 185860 HGNC : HGNC:20566 Ensembl : ENSG00000159164 |
| Other names | SV2 |
| Summary | The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29287 | 9900 | SV2A | 1 | 149881028 | 149881028 | Autism Spectrum Disorders | PASM |
| 29467 | 9900 | SV2A | 1 | 149881028 | 149881028 | Autism Spectrum Disorders | PASM MiSeq |