| Variant ID | 28528 |
|---|---|
| Entrez Gene ID | 1553 |
| Gene | CYP2A13 (GeneCards) |
| Location | hg19 19:41601108-41601108
hg38 19:41095203-41095203 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000019.9:g.41601108 G>C (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0138 |
| CADD Raw score (version 1.3) | 0.720504 (Deleterious) |
| FATHMM raw prediction score | 0.1281 (Tolerated) |
| Deleterious probability by DeFine | 0.5854 (Deleterious) |
| Entrez Gene ID | 1553 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP2A13 (GeneCards) |
| Number of variants in CYP2A13 in this database | 2 (view all the variants) |
| Full name | cytochrome P450 family 2 subfamily A member 13 |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182762 OMIM: 608055 HGNC: HGNC:2608 Ensembl: ENSG00000197838 |
| Other names | CPAD, CYP2A, CYPIIA13 |
| Summary | This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |