Entrez Gene ID | 6695 |
---|---|
Official Gene Symbol | SPOCK1 (GeneCards) |
Full name | SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 |
Location | 5q31.2 |
Other ids | Vega : OTTHUMG00000129157 MIM : 602264 HGNC : HGNC:11251 Ensembl : ENSG00000152377 |
Other names | TIC1, SPOCK, TESTICAN |
Summary | This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008] |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
7609 | 6695 | SPOCK1 | 5 | 136629629 | 136629629 | Asymptomatic | HiSeq X Ten |
7731 | 6695 | SPOCK1 | 5 | 136763456 | 136763456 | Asymptomatic | HiSeq X Ten |
7781 | 6695 | SPOCK1 | 5 | 136439028 | 136439028 | Asymptomatic | HiSeq X Ten |
8298 | 6695 | SPOCK1 | 5 | 136368057 | 136368057 | Asymptomatic | HiSeq X Ten |
8707 | 6695 | SPOCK1 | 5 | 136407649 | 136407649 | Cockayne syndrome | HiSeq X Ten |