Variant Details for SLC1A3
Basic Information Top
| Gene Symbol: | SLC1A3 ( EA6,EAAT1,FLJ25094,GLAST,GLAST1 ) |
|---|---|
| Gene Full Name: | solute carrier family 1 (glial high affinity glutamate transporter), member 3 |
| Band: | 5p13.2 |
| Quick Links | Entrez ID:6507; OMIM: 600111; Uniprot ID:EAA1_HUMAN; ENSEMBL ID: ENSG00000079215; HGNC ID: 10941 |
| 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 | 0 | 2 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005165 | 5 | 5p13.2 | 36534612 | 36719822 | 185210 | gain | external link | van Amen-Hellebrekers CJ, 2016 |
| AutCNV0005164 | 22 | 22q11.22 | 22311348 | 22578983 | 267635 | loss | external link | Kaufman CS, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||