| Variant ID | 34380 |
|---|---|
| Entrez Gene ID | 9627 |
| Gene | SNCAIP (GeneCards) |
| Location | hg19 5:121754023-121754023
hg38 5:122418328-122418328 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000005.9:g.121754023 G>C (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0868 |
| CADD Raw score (version 1.3) | -0.450371 (Deleterious) |
| FATHMM raw prediction score | 0.15587 (Tolerated) |
| Deleterious probability by DeFine | 0.4431 (Neutral) |
| Entrez Gene ID | 9627 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNCAIP (GeneCards) |
| Number of variants in SNCAIP in this database | 2 (view all the variants) |
| Full name | synuclein alpha interacting protein |
| Band | 5q23.2 |
| Other IDs | Vega: OTTHUMG00000128915 OMIM: 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] |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |