Variant Details for SLC6A8
Basic Information Top
| Gene Symbol: | SLC6A8 ( CRT,CRTR,CT1,MGC87396 ) |
|---|---|
| Gene Full Name: | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
| Band: | Xq28 |
| Quick Links | Entrez ID:6535; OMIM: 300036; Uniprot ID:SC6A8_HUMAN; ENSEMBL ID: ENSG00000130821; HGNC ID: 11055 |
| 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 | 1 | 1 | 0 | 2 | 2 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005161 | 16 | 16p13.11 | 14897761/14780303 | 16276117/16458270 | 1378356 | gain | external link | Brownstein CA, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 152959900 | C | T | strong | 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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 152960226 | C | G | c.1649C>G | p.Thr550Ser | neutral | 0.1287 | Nava C, 2012 | |
| X | 152959387 | C | A | deleterious | 0.9996 | Li J, 2017 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Poo-Arguelles, 2006 | |||||||||
| Newmeyer, 2007 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||