| Entrez Gene ID | 256006 |
|---|---|
| Official Gene Symbol | ANKRD31 (GeneCards) |
| Full name | ankyrin repeat domain 31 |
| Location | 5q13.3 |
| Other ids | Vega : OTTHUMG00000162649 HGNC : HGNC:26853 Ensembl : ENSG00000145700 |
| Other names | None |
| Summary | This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7775 | 256006 | ANKRD31 | 5 | 74435252 | 74435252 | Asymptomatic | HiSeq X Ten |
| 7940 | 256006 | ANKRD31 | 5 | 74422136 | 74422136 | Asymptomatic | HiSeq X Ten |
| 8616 | 256006 | ANKRD31 | 5 | 74427275 | 74427275 | Cockayne syndrome | HiSeq X Ten |
| 22997 | 256006 | ANKRD31 | 5 | 74457275 | 74457275 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |