| Entrez Gene ID | 93166 |
|---|---|
| Official Gene Symbol | PRDM6 (GeneCards) |
| Full name | PR/SET domain 6 |
| Location | 5q23.2 |
| Other ids | Vega : OTTHUMG00000150469 MIM : 616982 HGNC : HGNC:9350 Ensembl : ENSG00000061455 |
| Other names | PDA3, KMT8C, PRISM |
| Summary | The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7778 | 93166 | PRDM6 | 5 | 122658057 | 122658057 | Asymptomatic | HiSeq X Ten |
| 8359 | 93166 | PRDM6 | 5 | 122443795 | 122443795 | Asymptomatic | HiSeq X Ten |
| 8395 | 93166 | PRDM6 | 5 | 122590094 | 122590094 | Asymptomatic | HiSeq X Ten |
| 8599 | 93166 | PRDM6 | 5 | 122524564 | 122524564 | Cockayne syndrome | HiSeq X Ten |
| 8706 | 93166 | PRDM6 | 5 | 122509510 | 122509510 | Cockayne syndrome | HiSeq X Ten |
| 23001 | 93166 | PRDM6 | 5 | 122449410 | 122449410 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |