| Entrez Gene ID | 114876 |
|---|---|
| Official Gene Symbol | OSBPL1A (GeneCards) |
| Full name | oxysterol binding protein like 1A |
| Location | 18q11.2 |
| Other ids | Vega : OTTHUMG00000131944 MIM : 606730 HGNC : HGNC:16398 Ensembl : ENSG00000141447 |
| Other names | ORP1, ORP-1, OSBPL1B |
| Summary | This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 20234 | 114876 | OSBPL1A | 18 | 21894516 | 21894516 | Asymptomatic | HiSeq 2000 |
| 20366 | 114876 | OSBPL1A | 18 | 21962685 | 21962685 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 20374 | 114876 | OSBPL1A | 18 | 21753577 | 21753577 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 20669 | 114876 | OSBPL1A | 18 | 21828727 | 21828727 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |