| Entrez Gene ID | 5591 |
|---|---|
| Official Gene Symbol | PRKDC (GeneCards) |
| Full name | protein kinase, DNA-activated, catalytic subunit |
| Location | 8q11.21 |
| Other ids | Vega : OTTHUMG00000164239 MIM : 600899 HGNC : HGNC:9413 Ensembl : ENSG00000253729 |
| Other names | HYRC, p350, DNAPK, DNPK1, HYRC1, IMD26, XRCC7, DNAPKc, DNA-PKC, DNA-PKcs |
| Summary | This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29573 | 5591 | PRKDC | 8 | 48710841 | 48710841 | Autism Spectrum Disorders | MiSeq |
| 29592 | 5591 | PRKDC | 8 | 48827944 | 48827944 | Autism Spectrum Disorders | MiSeq |