| Entrez Gene ID | 84288 |
|---|---|
| Official Gene Symbol | EFCAB2 (GeneCards) |
| Full name | EF-hand calcium binding domain 2 |
| Location | 1q44 |
| Other ids | Vega : OTTHUMG00000040474 HGNC : HGNC:28166 Ensembl : ENSG00000203666 |
| Other names | DRC8, CFAP200 |
| Summary | The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1608 | 84288 | EFCAB2 | 1 | 245213051 | 245213051 | Asymptomatic | HiSeq X Ten |
| 2186 | 84288 | EFCAB2 | 1 | 245254647 | 245254647 | Asymptomatic | HiSeq X Ten |
| 29721 | 84288 | EFCAB2 | 1 | 245250572 | 245250572 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |