| Variant ID | 16834 |
|---|---|
| Entrez Gene ID | 53919 |
| Gene | SLCO1C1 (GeneCards) |
| Location | hg19 12:20902944-20902944
hg38 12:20750010-20750010 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.20902944 A>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2886 |
| CADD Raw score (version 1.3) | -0.474877 (Deleterious) |
| FATHMM raw prediction score | 0.08636 (Tolerated) |
| Deleterious probability by DeFine | 0.4757 (Neutral) |
| Entrez Gene ID | 53919 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLCO1C1 (GeneCards) |
| Number of variants in SLCO1C1 in this database | 2 (view all the variants) |
| Full name | solute carrier organic anion transporter family member 1C1 |
| Band | 12p12.2 |
| Other IDs | Vega: OTTHUMG00000168966 OMIM: 613389 HGNC: HGNC:13819 Ensembl: ENSG00000139155 |
| Other names | OATP1, OATPF, OATP-F, OATP14, OATP1C1, OATPRP5, SLC21A14 |
| Summary | This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] |
| Individual ID | 29217584.15 (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; |