Entrez Gene ID | 79934 |
---|---|
Official Gene Symbol | COQ8B (GeneCards) |
Full name | coenzyme Q8B |
Location | 19q13.2 |
Other ids | Vega : OTTHUMG00000182620 MIM : 615567 HGNC : HGNC:19041 Ensembl : ENSG00000123815 |
Other names | ADCK4, NPHS9 |
Summary | This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1161 | 79934 | ADCK4 | 19 | 41206317 | 41206317 | Autism Spectrum Disorders | NextSeq500 v2 |
29925 | 79934 | ADCK4 | 19 | 41206317 | 41206317 | Autism Spectrum Disorders | NextSeq500 v2 NextSeq500 |