| Entrez Gene ID | 53336 |
|---|---|
| Official Gene Symbol | CPXCR1 (GeneCards) |
| Full name | CPX chromosome region, candidate 1 |
| Location | Xq21.31 |
| Other ids | Vega : OTTHUMG00000021950 HGNC : HGNC:2332 Ensembl : ENSG00000147183 |
| Other names | CT77 |
| Summary | This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21997 | 53336 | CPXCR1 | X | 88273050 | 88273050 | Asymptomatic | HiSeq X Ten |
| 22281 | 53336 | CPXCR1 | X | 88449765 | 88449765 | Cockayne syndrome | HiSeq X Ten |
| 28763 | 53336 | CPXCR1 | X | 88888672 | 88888672 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28893 | 53336 | CPXCR1 | X | 88050926 | 88050926 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |