Variant Details for SLC1A6
Basic Information Top
| Gene Symbol: | SLC1A6 ( EAAT4,MGC33092,MGC43671 ) |
|---|---|
| Gene Full Name: | solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
| Band: | 19p13.12 |
| Quick Links | Entrez ID:6511; OMIM: 600637; Uniprot ID:EAA4_HUMAN; ENSEMBL ID: ENSG00000105143; HGNC ID: 10944 |
| 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 | 2 | 0 | 0 | 0 | 0 | 2 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004369 | 19 | 19p13.12 | 15049717 | 15886565 | 836848 | gain | external link | Sanders, 2011 |
| AutCNV0004165 | 19 | 19p13.12 | 14963778 | 15209078 | 245300 | loss | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000056 | 19p13.12 | 19 | D19S226 | 1.37 | - | - | Philippe, 1999 |
| AutLD0000092 | 19p13.12 | 19 | D19S714 | - | 1.56 | - | Buxbaum, 2004 |