Variant Details for MUC12
Basic Information Top
| Gene Symbol: | MUC12 ( MUC-11,MUC-12,MUC11 ) |
|---|---|
| Gene Full Name: | mucin 12, cell surface associated |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:10071; OMIM: 604609; Uniprot ID:F5GWV9_HUMAN; ENSEMBL ID: ENSG00000205277; HGNC ID: 7510 |
| 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 | 1 | 8 | 0 | 0 | 0 | 9 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 100636140 | G | T | Sanger sequencing | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 7 | 100643718 | T | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100645835 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100645744 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100643391 | T | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100645863 | C | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100645791 | A | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100646887 | C | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100636292 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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! | |||||||