| Entrez Gene ID | 414059 |
|---|---|
| Official Gene Symbol | TBC1D3B (GeneCards) |
| Full name | TBC1 domain family member 3B |
| Location | 17q12 |
| Other ids | Vega : OTTHUMG00000188417 MIM : 610144 HGNC : HGNC:27011 Ensembl : ENSG00000274808 |
| Other names | PRC17, TBC1D3I, TBC1D3L |
| Summary | This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29351 | 414059 | TBC1D3B | 17 | 34499272 | 34499272 | Autism Spectrum Disorders | MiSeq |