| Variant ID | 20708 |
|---|---|
| Entrez Gene ID | 8170 |
| Gene | SLC14A2 (GeneCards) |
| Location | hg19 18:42946652-42946652
hg38 18:45366687-45366687 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.42946652 C>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.0003 |
| CADD Raw score (version 1.3) | 0.045356 (Deleterious) |
| FATHMM raw prediction score | 0.11956 (Tolerated) |
| Deleterious probability by DeFine | 0.7796 (Deleterious) |
| Entrez Gene ID | 8170 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC14A2 (GeneCards) |
| Number of variants in SLC14A2 in this database | 7 (view all the variants) |
| Full name | solute carrier family 14 member 2 |
| Band | 18q12.3 |
| Other IDs | Vega: OTTHUMG00000132616 OMIM: 601611 HGNC: HGNC:10919 Ensembl: ENSG00000132874 |
| Other names | UT2, UTA, UTR, HUT2, UT-A2, hUT-A6 |
| Summary | The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |