Variant Details for SLC12A5
Basic Information Top
| Gene Symbol: | SLC12A5 ( KCC2,KIAA1176 ) |
|---|---|
| Gene Full Name: | solute carrier family 12 (potassium/chloride transporter), member 5 |
| Band: | 20q13.12 |
| Quick Links | Entrez ID:57468; OMIM: 606726; Uniprot ID:S12A5_HUMAN; ENSEMBL ID: ENSG00000124140; HGNC ID: 13818 |
| 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 | 1 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000653 | 20 | 20q13.12 | 44407602 | 44867465 | 459863 | gain | external link | Gregory, 2009 |
| AutCNV0000652 | 20 | 20q13.12 | 44342273 | 44867465 | 525192 | gain | external link | Gregory, 2009 |
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 |
|---|