| Variant ID | 3232 |
|---|---|
| Entrez Gene ID | 129607 |
| Gene | CMPK2 (GeneCards) |
| Location | hg19 2:6988709-6988709
hg38 2:6848578-6848578 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.6988709 A>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1903 |
| CADD Raw score (version 1.3) | 0.072901 (Deleterious) |
| FATHMM raw prediction score | 0.20998 (Tolerated) |
| Deleterious probability by DeFine | 0.4068 (Neutral) |
| Entrez Gene ID | 129607 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CMPK2 (GeneCards) |
| Number of variants in CMPK2 in this database | 3 (view all the variants) |
| Full name | cytidine/uridine monophosphate kinase 2 |
| Band | 2p25.2 |
| Other IDs | Vega: OTTHUMG00000151629 OMIM: 611787 HGNC: HGNC:27015 Ensembl: ENSG00000134326 |
| Other names | NDK, TYKi, TMPK2, UMP-CMPK2 |
| Summary | This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] |
| Individual ID | 29217584.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |