Variant Details for MUC2
Basic Information Top
| Gene Symbol: | MUC2 ( MLP,SMUC ) |
|---|---|
| Gene Full Name: | mucin 2, oligomeric mucus/gel-forming |
| Band: | 11p15.5 |
| Quick Links | Entrez ID:4583; OMIM: 158370; Uniprot ID:MUC2_HUMAN; ENSEMBL ID: ENSG00000198788; HGNC ID: 7512 |
| 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 | 7 | 0 | 0 | 0 | 0 | 7 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 1093562 | C | G | Sanger sequencing | neutral | 0.0016 | De Rubeis S, 2014 | ||
| 11 | 1101090 | G | A | Sanger sequencing | neutral | 0.0016 | De Rubeis S, 2014 | ||
| 11 | 1090971 | C | T | PCR or Sanger sequencing | neutral | 0.0082 | Iossifov I, 2014 | ||
| 11 | 1094679 | G | A | PCR or Sanger sequencing | neutral | 0.0171 | Iossifov I, 2014 | ||
| 11 | 1104228 | G | A | PCR or Sanger sequencing | neutral | 0.0126 | Iossifov I, 2014 | ||
| 11 | 1104266 | G | A | strong | Iossifov I, 2014 | ||||
| 11 | 1075819 | C | T | neutral | 0.0078 | Chen R, 2017 |
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! | |||||||