Variant Details for SNW1
Basic Information Top
| Gene Symbol: | SNW1 ( Bx42,MGC119379,NCOA-62,PRPF45,Prp45,SKIIP,SKIP ) |
|---|---|
| Gene Full Name: | SNW domain containing 1 |
| Band: | 14q24.3 |
| Quick Links | Entrez ID:22938; OMIM: 603055; Uniprot ID:SNW1_HUMAN; ENSEMBL ID: ENSG00000100603; HGNC ID: 16696 |
| 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 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003705 | 14 | 14q24.3 | 78119878 | 78411146 | 291268 | gain | external link | Gai, 2011 |
| AutCNV0003704 | 14 | 14q24.3 | 78119878 | 78408869 | 288991 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 78227470 | TCTTCTTCCG | T | PCR amplification and Sanger s | Dong 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000135 | 14q24.3 | 14 | D14S53 | - | - | 0.00218 | Lauritsen, 2006 |