| Entrez Gene ID | 9627 |
|---|---|
| Official Gene Symbol | SNCAIP (GeneCards) |
| Full name | synuclein alpha interacting protein |
| Location | 5q23.2 |
| Other ids | Vega : OTTHUMG00000128915 MIM : 603779 HGNC : HGNC:11139 Ensembl : ENSG00000064692 |
| Other names | Sph1, SYPH1 |
| Summary | This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29311 | 9627 | SNCAIP | 5 | 121761186 | 121761186 | Autism Spectrum Disorders | PASM |
| 34380 | 9627 | SNCAIP | 5 | 121754023 | 121754023 | Asymptomatic | PASM Whole Genome Sequencing Ion Torrent PGM Sequencing |