| Variant ID | 852 |
|---|---|
| Entrez Gene ID | 9389 |
| Gene | SLC22A14 (GeneCards) |
| Location | hg19 3:38347790-38347790
hg38 3:38306299-38306299 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.38347790 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 91 |
| Amino acid changes in protein | F > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.221 |
| CADD Raw score (version 1.3) | -0.175603 (Deleterious) |
| FATHMM raw prediction score | 0.21686 (Tolerated) |
| Deleterious probability by DeFine | 0.8698 (Deleterious) |
| Entrez Gene ID | 9389 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC22A14 (GeneCards) |
| Number of variants in SLC22A14 in this database | 3 (view all the variants) |
| Full name | solute carrier family 22 member 14 |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000131082 OMIM: 604048 HGNC: HGNC:8495 Ensembl: ENSG00000144671 |
| Other names | OCTL2, OCTL4, ORCTL4 |
| Summary | This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |