Entrez Gene ID | 57522 |
---|---|
Official Gene Symbol | SRGAP1 (GeneCards) |
Full name | SLIT-ROBO Rho GTPase activating protein 1 |
Location | 12q14.2 |
Other ids | Vega : OTTHUMG00000168750 MIM : 606523 HGNC : HGNC:17382 Ensembl : ENSG00000196935 |
Other names | NMTC2, ARHGAP13 |
Summary | The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1541 | 57522 | SRGAP1 | 12 | 64519801 | 64519801 | Autism Spectrum Disorders | Hiseq |
16691 | 57522 | SRGAP1 | 12 | 64416511 | 64416511 | Asymptomatic | Hiseq HiSeq X Ten |
27453 | 57522 | SRGAP1 | 12 | 64324087 | 64324087 | Asymptomatic | Hiseq HiSeq X Ten Single cell Sequencing Cell cloning |