Entrez Gene ID | 285195 |
---|---|
Official Gene Symbol | SLC9A9 (GeneCards) |
Full name | solute carrier family 9 member A9 |
Location | 3q24 |
Other ids | Vega : OTTHUMG00000159373 MIM : 608396 HGNC : HGNC:20653 Ensembl : ENSG00000181804 |
Other names | NHE9, AUTS16 |
Summary | This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012] |
Found 6 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
4665 | 285195 | SLC9A9 | 3 | 143442445 | 143442445 | Asymptomatic | HiSeq X Ten |
4722 | 285195 | SLC9A9 | 3 | 143044391 | 143044391 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
5433 | 285195 | SLC9A9 | 3 | 143415474 | 143415474 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
5822 | 285195 | SLC9A9 | 3 | 143684606 | 143684606 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
5931 | 285195 | SLC9A9 | 3 | 143414122 | 143414122 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |
22773 | 285195 | SLC9A9 | 3 | 143642351 | 143642351 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |