Entrez Gene ID | 23025 |
---|---|
Official Gene Symbol | UNC13A (GeneCards) |
Full name | unc-13 homolog A |
Location | 19p13.11 |
Other ids | Vega : OTTHUMG00000163877 MIM : 609894 HGNC : HGNC:23150 Ensembl : ENSG00000130477 |
Other names | Mnc13-1 |
Summary | This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
29920 | 23025 | UNC13A | 19 | 17720779 | 17720779 | Autism Spectrum Disorders | NextSeq500 |
29921 | 23025 | UNC13A | 19 | 17768899 | 17768899 | Autism Spectrum Disorders | NextSeq500 |