| Entrez Gene ID | 57194 |
|---|---|
| Official Gene Symbol | ATP10A (GeneCards) |
| Full name | ATPase phospholipid transporting 10A (putative) |
| Location | 15q12 |
| Other ids | Vega : OTTHUMG00000171703 MIM : 605855 HGNC : HGNC:13542 Ensembl : ENSG00000206190 |
| Other names | ATPVA, ATPVC, ATP10C |
| Summary | The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 19011 | 57194 | ATP10A | 15 | 26017514 | 26017514 | Asymptomatic | HiSeq X Ten |
| 19152 | 57194 | ATP10A | 15 | 25998216 | 25998216 | Asymptomatic | HiSeq X Ten |
| 19323 | 57194 | ATP10A | 15 | 26120767 | 26120767 | Xeroderma Pigmentosum | HiSeq X Ten |
| 29552 | 57194 | ATP10A | 15 | 25958938 | 25958938 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |