Variant Details for SLC4A11
Basic Information Top
| Gene Symbol: | SLC4A11 ( BTR1,CHED2,MGC126418,MGC126419,NABC1,dJ794I6.2 ) |
|---|---|
| Gene Full Name: | solute carrier family 4, sodium borate transporter, member 11 |
| Band: | 20p13 |
| Quick Links | Entrez ID:83959; OMIM: 610206; Uniprot ID:S4A11_HUMAN; ENSEMBL ID: ENSG00000088836; HGNC ID: 16438 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000014 | 20 | 20p13 | 2837194 | 4006399 | 1169205 | loss | external link | Sebat, 2007 |
| AutCNV0004374 | 20 | 20p13 | 2837194 | 4006399 | 1169205 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 3218211 | T | C | Sanger sequencing | neutral | 0.0068 | De Rubeis S, 2014 | ||
| 20 | 3218211 | T | C | c.67AAT>GAT | p.23N>D | neutral | 0.0068 | Fromer M, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||