| Variant ID | 11711 |
|---|---|
| Entrez Gene ID | 157313 |
| Gene | CDCA2 (GeneCards) |
| Location | hg19 8:25529062-25529062
hg38 8:25671546-25671546 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000008.10:g.25529062 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs191543638 |
| EIGEN score | 1.1789 |
| CADD Raw score (version 1.3) | 1.29535 (Deleterious) |
| FATHMM raw prediction score | 0.33597 (Tolerated) |
| Deleterious probability by DeFine | 0.9091 (Deleterious) |
| Entrez Gene ID | 157313 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDCA2 (GeneCards) |
| Number of variants in CDCA2 in this database | 3 (view all the variants) |
| Full name | cell division cycle associated 2 |
| Band | 8p21.2 |
| Other IDs | Vega: OTTHUMG00000099429 HGNC: HGNC:14623 Ensembl: ENSG00000184661 |
| Other names | PPP1R81, Repo-Man |
| Summary | This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.04 (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; |