Entrez Gene ID | 83594 |
---|---|
Official Gene Symbol | NUDT12 (GeneCards) |
Full name | nudix hydrolase 12 |
Location | 5q21.2 |
Other ids | Vega : OTTHUMG00000128739 MIM : 609232 HGNC : HGNC:18826 Ensembl : ENSG00000112874 |
Other names | None |
Summary | Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008] |
Found 13 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
7475 | 83594 | NUDT12 | 5 | 103790404 | 103790404 | Asymptomatic | HiSeq X Ten |
7534 | 83594 | NUDT12 | 5 | 103737795 | 103737795 | Asymptomatic | HiSeq X Ten |
7552 | 83594 | NUDT12 | 5 | 103347679 | 103347679 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
7906 | 83594 | NUDT12 | 5 | 104048773 | 104048773 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
7966 | 83594 | NUDT12 | 5 | 103092332 | 103092332 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
8183 | 83594 | NUDT12 | 5 | 103927234 | 103927234 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
8220 | 83594 | NUDT12 | 5 | 103143571 | 103143571 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
8283 | 83594 | NUDT12 | 5 | 103991637 | 103991637 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
8337 | 83594 | NUDT12 | 5 | 103705055 | 103705055 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
8410 | 83594 | NUDT12 | 5 | 104100635 | 104100635 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
8531 | 83594 | NUDT12 | 5 | 103552131 | 103552131 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
8656 | 83594 | NUDT12 | 5 | 103201618 | 103201618 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
25945 | 83594 | NUDT12 | 5 | 103634679 | 103634679 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |