Variant Details for SLC5A8
Basic Information Top
| Gene Symbol: | SLC5A8 ( AIT,MGC125354,SMCT,SMCT1 ) |
|---|---|
| Gene Full Name: | solute carrier family 5 (iodide transporter), member 8 |
| Band: | 12q23.1-q23.2 |
| Quick Links | Entrez ID:160728; OMIM: 608044; Uniprot ID:SC5A8_HUMAN; ENSEMBL ID: ENSG00000139357; HGNC ID: 19119 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 3 | 2 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
| AutCNV0003351 | 12 | 12q23.1-23.2 | 101273183 | 101757068 | 483885 | gain | external link | Gai, 2011 |
| AutCNV0003350 | 12 | 12q23.1-23.2 | 101273183 | 101750667 | 477484 | gain | external link | Gai, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 101584304 | C | T | Sanger sequencing | neutral | 0.4639 | De Rubeis S, 2014 | ||
| 12 | 101588900 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||