Variant Details for SNRNP200
Basic Information Top
| Gene Symbol: | SNRNP200 ( ASCC3L1,BRR2,FLJ11521,HELIC2,RP33,U5-200KD ) |
|---|---|
| Gene Full Name: | small nuclear ribonucleoprotein 200kDa (U5) |
| Band: | 2q11.2 |
| Quick Links | Entrez ID:23020; OMIM: 601664; Uniprot ID:U520_HUMAN; ENSEMBL ID: ENSG00000144028; HGNC ID: 30859 |
| 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 | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 96962741 | T | C | Sanger sequencing | deleterious | 0.9999 | De Rubeis S, 2014 | ||
| 2 | 96953160 | G | A | strong | Iossifov I, 2014 | ||||
| 2 | 96944354 | C | T | c.5419G>A | p.Glu1807Lys | Not_tested | deleterious | 0.9195 | 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! | |||||||