Variant Details for SLC6A3
Basic Information Top
| Gene Symbol: | SLC6A3 ( DAT,DAT1 ) |
|---|---|
| Gene Full Name: | solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 |
| Band: | 5p15.33 |
| Quick Links | Entrez ID:6531; OMIM: 126455; Uniprot ID:SC6A3_HUMAN; ENSEMBL ID: ENSG00000142319; HGNC ID: 11049 |
| 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 | 1 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000140 | 5 | 5p15.33-15.2 | 28949 | 13829933 | 13800984 | loss | external link | Marshall, 2008 |
| AutCNV0001736 | 5 | 5p15.33 | 1093260 | 1395077 | 301817 | gain | external link | Pinto, 2010 |
| AutCNV0004241 | 5 | 5p15.2-p15.33 | 28949 | 13829933 | 13800984 | loss | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 1414895 | G | A | c.1067C>T | p.Thr356Met | Sanger sequencing | deleterious | 0.9992 | Neale BM, 2012 |
| 5 | 1414895 | G | A | Sanger sequencing | deleterious | 0.9992 | De Rubeis S, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 14303128 | Ala559Val | Y | Bowton E, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||