| Entrez Gene ID | 107 |
|---|---|
| Official Gene Symbol | ADCY1 (GeneCards) |
| Full name | adenylate cyclase 1 |
| Location | 7p12.3 |
| Other ids | Vega : OTTHUMG00000155420 MIM : 103072 HGNC : HGNC:232 Ensembl : ENSG00000164742 |
| Other names | AC1, DFNB44 |
| Summary | This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11083 | 107 | ADCY1 | 7 | 45762462 | 45762462 | Asymptomatic | HiSeq X Ten |
| 11372 | 107 | ADCY1 | 7 | 45693292 | 45693292 | Cockayne syndrome | HiSeq X Ten |