| Entrez Gene ID | 6662 |
|---|---|
| Official Gene Symbol | SOX9 (GeneCards) |
| Full name | SRY-box 9 |
| Location | 17q24.3 |
| Other ids | Vega : OTTHUMG00000166300 MIM : 608160 HGNC : HGNC:11204 Ensembl : ENSG00000125398 |
| Other names | CMD1, SRA1, CMPD1, SRXX2, SRXY10 |
| Summary | The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 485 | 6662 | SOX9 | 17 | 70120318 | 70120318 | Campomelic dysplasia | PSQ96 |
| 20003 | 6662 | SOX9 | 17 | 70325544 | 70325544 | Asymptomatic | PSQ96 HiSeq X Ten |
| 20037 | 6662 | SOX9 | 17 | 70350363 | 70350363 | Asymptomatic | PSQ96 HiSeq X Ten |
| 20129 | 6662 | SOX9 | 17 | 70352484 | 70352484 | Cockayne syndrome | PSQ96 HiSeq X Ten |