| Variant ID | 1673 |
|---|---|
| Entrez Gene ID | 7371 |
| Gene | UCK2 (GeneCards) |
| Location | hg19 1:165904216-165904216
hg38 1:165934979-165934979 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.165904216 G>A (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0213 |
| CADD Raw score (version 1.3) | 0.023833 (Deleterious) |
| FATHMM raw prediction score | 0.14222 (Tolerated) |
| Deleterious probability by DeFine | 0.5301 (Deleterious) |
| Entrez Gene ID | 7371 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UCK2 (GeneCards) |
| Number of variants in UCK2 in this database | 2 (view all the variants) |
| Full name | uridine-cytidine kinase 2 |
| Band | 1q24.1 |
| Other IDs | Vega: OTTHUMG00000040117 OMIM: 609329 HGNC: HGNC:12562 Ensembl: ENSG00000143179 |
| Other names | UK, UMPK, TSA903 |
| Summary | This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010] |
| Individual ID | 29217584.03 (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; |