| Entrez Gene ID | 196527 |
|---|---|
| Official Gene Symbol | ANO6 (GeneCards) |
| Full name | anoctamin 6 |
| Location | 12q12 |
| Other ids | Vega : OTTHUMG00000169564 MIM : 608663 HGNC : HGNC:25240 Ensembl : ENSG00000177119 |
| Other names | SCTS, BDPLT7, TMEM16F |
| Summary | This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16078 | 196527 | ANO6 | 12 | 45906181 | 45906181 | Asymptomatic | HiSeq X Ten |
| 16111 | 196527 | ANO6 | 12 | 45924490 | 45924490 | Asymptomatic | HiSeq X Ten |
| 16768 | 196527 | ANO6 | 12 | 45888049 | 45888049 | Asymptomatic | HiSeq X Ten |
| 27418 | 196527 | ANO6 | 12 | 45812593 | 45812593 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27474 | 196527 | ANO6 | 12 | 45900301 | 45900301 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |