Variant Details for SLC5A12
Basic Information Top
| Gene Symbol: | SLC5A12 ( DKFZp564G223,MGC52019,SMCT2 ) |
|---|---|
| Gene Full Name: | solute carrier family 5 (sodium/glucose cotransporter), member 12 |
| Band: | 11p14.2 |
| Quick Links | Entrez ID:159963; OMIM: 612455; Uniprot ID:SC5AC_HUMAN; ENSEMBL ID: ENSG00000148942; HGNC ID: 28750 |
| 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 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000707 | 11 | 11p14.2-13 | 26143424 | 31743424 | 5600000 | loss | external link | Shinawi, 2011 |
| AutCNV0004122 | 11 | 11p14.3-p14.2 | 24288674 | 26778743 | 2490069 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 26725149 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 11 | 26732893 | C | T | c.418G>A | p.Gly140Arg | Sanger sequencing | deleterious | 0.9995 | Takata A, 2018 |
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! | |||||||