| Entrez Gene ID | 81846 |
|---|---|
| Official Gene Symbol | SBF2 (GeneCards) |
| Full name | SET binding factor 2 |
| Location | 11p15.4 |
| Other ids | Vega : OTTHUMG00000165890 MIM : 607697 HGNC : HGNC:2135 Ensembl : ENSG00000133812 |
| Other names | CMT4B2, MTMR13, DENND7B |
| Summary | This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1116 | 81846 | SBF2 | 11 | 9879805 | 9879805 | Human Skin Fibroblasts | HiSeq 2500 |
| 15768 | 81846 | SBF2 | 11 | 10122951 | 10122951 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 27310 | 81846 | SBF2 | 11 | 10177166 | 10177166 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |