| Variant ID | 24779 |
|---|---|
| Entrez Gene ID | 130749 |
| Gene | CPO (GeneCards) |
| Location | hg19 2:207857890-207857890
hg38 2:206993166-206993166 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.207857890 G>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 | 0.0476 |
| CADD Raw score (version 1.3) | -0.232507 (Deleterious) |
| FATHMM raw prediction score | 0.15733 (Tolerated) |
| Deleterious probability by DeFine | 0.3778 (Neutral) |
| Entrez Gene ID | 130749 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPO (GeneCards) |
| Number of variants in CPO in this database | 3 (view all the variants) |
| Full name | carboxypeptidase O |
| Band | 2q33.3 |
| Other IDs | Vega: OTTHUMG00000088987 OMIM: 609563 HGNC: HGNC:21011 Ensembl: ENSG00000144410 |
| Other names | None |
| Summary | This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |