| Entrez Gene ID | 64881 |
|---|---|
| Official Gene Symbol | PCDH20 (GeneCards) |
| Full name | protocadherin 20 |
| Location | 13q21.2 |
| Other ids | Vega : OTTHUMG00000189120 MIM : 614449 HGNC : HGNC:14257 Ensembl : ENSG00000280165 |
| Other names | PCDH13 |
| Summary | This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 17314 | 64881 | PCDH20 | 13 | 62277560 | 62277560 | Asymptomatic | HiSeq X Ten |
| 17332 | 64881 | PCDH20 | 13 | 62446900 | 62446900 | Asymptomatic | HiSeq X Ten |
| 17518 | 64881 | PCDH20 | 13 | 62110183 | 62110183 | Asymptomatic | HiSeq X Ten |
| 17875 | 64881 | PCDH20 | 13 | 62210715 | 62210715 | Cockayne syndrome | HiSeq X Ten |
| 17917 | 64881 | PCDH20 | 13 | 61993376 | 61993376 | Xeroderma Pigmentosum | HiSeq X Ten |
| 27637 | 64881 | PCDH20 | 13 | 62509938 | 62509938 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |