| Variant ID | 886 |
|---|---|
| Entrez Gene ID | 6574 |
| Gene | SLC20A1 (GeneCards) |
| Location | hg19 2:113404646-113404646
hg38 2:112647069-112647069 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.113404646 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 81 |
| Amino acid changes in protein | V > M |
| 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 | 1.1145 |
| CADD Raw score (version 1.3) | 5.995483 (Deleterious) |
| FATHMM raw prediction score | 0.97371 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.31 (Deleterious) |
| PROVEAN score | -2.9 (Deleterious) |
| MetaSVM score | 1.096 (Deleterious) |
| MetaLR score | 0.955 (Deleterious) |
| MCAP score | 0.417 (Deleterious) |
| FitCons score | 0.628 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.995 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.204 |
| Deleterious probability by iFish2 | 0.9999 (Deleterious) |
| Deleterious probability by DeFine | 0.9491 (Deleterious) |
| Entrez Gene ID | 6574 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC20A1 (GeneCards) |
| Number of variants in SLC20A1 in this database | 1 (view all the variants) |
| Full name | solute carrier family 20 member 1 |
| Band | 2q14.1 |
| Other IDs | Vega: OTTHUMG00000131317 OMIM: 137570 HGNC: HGNC:10946 Ensembl: ENSG00000144136 |
| Other names | PIT1, GLVR1, PiT-1, Glvr-1 |
| Summary | The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011] |
| Individual ID | 27788131.02 (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; |