Variant Details for SLC34A1
Basic Information Top
| Gene Symbol: | SLC34A1 ( FRTS2,NAPI-3,NPHLOP1,NPT2,NPTIIa,SLC11,SLC17A2 ) |
|---|---|
| Gene Full Name: | solute carrier family 34 (sodium phosphate), member 1 |
| Band: | 5q35.3 |
| Quick Links | Entrez ID:6569; OMIM: 182309; Uniprot ID:NPT2A_HUMAN; ENSEMBL ID: ENSG00000131183; HGNC ID: 11019 |
| 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 | 1 | 3 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004248 | 5 | 5q35.2-q35.3 | 175559839 | 177426530 | 1866691 | 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 | 176813540 | A | G | Sanger sequencing | deleterious | 0.873 | De Rubeis S, 2014 | ||
| 5 | 176824788 | C | T | Sanger sequencing | deleterious | 0.9993 | De Rubeis S, 2014 | ||
| 5 | 176824788 | C | T | c.1421GCC>GTC | p.474A>V | deleterious | 0.9993 | 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! | |||||||