| Entrez Gene ID | 6641 |
|---|---|
| Official Gene Symbol | SNTB1 (GeneCards) |
| Full name | syntrophin beta 1 |
| Location | 8q24.12 |
| Other ids | Vega : OTTHUMG00000165041 MIM : 600026 HGNC : HGNC:11168 Ensembl : ENSG00000172164 |
| Other names | A1B, SNT2, BSYN2, 59-DAP, DAPA1B, SNT2B1, TIP-43 |
| Summary | Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] |
Found 18 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11680 | 6641 | SNTB1 | 8 | 121709978 | 121709978 | Asymptomatic | HiSeq X Ten |
| 11702 | 6641 | SNTB1 | 8 | 122048135 | 122048135 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 11945 | 6641 | SNTB1 | 8 | 122172113 | 122172113 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 12008 | 6641 | SNTB1 | 8 | 122242246 | 122242246 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 12077 | 6641 | SNTB1 | 8 | 122485749 | 122485749 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 12308 | 6641 | SNTB1 | 8 | 122273567 | 122273567 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 12480 | 6641 | SNTB1 | 8 | 122477547 | 122477547 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 12536 | 6641 | SNTB1 | 8 | 122409639 | 122409639 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 12580 | 6641 | SNTB1 | 8 | 122539772 | 122539772 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 12599 | 6641 | SNTB1 | 8 | 121729394 | 121729394 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
| 12785 | 6641 | SNTB1 | 8 | 121833631 | 121833631 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |
| 12858 | 6641 | SNTB1 | 8 | 121731482 | 121731482 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |
| 26565 | 6641 | SNTB1 | 8 | 121709922 | 121709922 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 26619 | 6641 | SNTB1 | 8 | 121647520 | 121647520 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 26620 | 6641 | SNTB1 | 8 | 122017522 | 122017522 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 26642 | 6641 | SNTB1 | 8 | 121664248 | 121664248 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 26778 | 6641 | SNTB1 | 8 | 122075173 | 122075173 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 26779 | 6641 | SNTB1 | 8 | 122344762 | 122344762 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |