Entrez Gene ID | 9358 |
---|---|
Official Gene Symbol | ITGBL1 (GeneCards) |
Full name | integrin subunit beta like 1 |
Location | 13q33.1 |
Other ids | Vega : OTTHUMG00000017296 MIM : 604234 HGNC : HGNC:6164 Ensembl : ENSG00000198542 |
Other names | OSCP, TIED |
Summary | This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
17143 | 9358 | ITGBL1 | 13 | 102172752 | 102172752 | Asymptomatic | HiSeq X Ten |
17151 | 9358 | ITGBL1 | 13 | 102134979 | 102134979 | Asymptomatic | HiSeq X Ten |
17289 | 9358 | ITGBL1 | 13 | 102172042 | 102172042 | Asymptomatic | HiSeq X Ten |
17602 | 9358 | ITGBL1 | 13 | 102268283 | 102268283 | Asymptomatic | HiSeq X Ten |
17882 | 9358 | ITGBL1 | 13 | 102138098 | 102138098 | Cockayne syndrome | HiSeq X Ten |