Variant Details for AMY2B
Basic Information Top
| Gene Symbol: | AMY2B ( AMY2 ) |
|---|---|
| Gene Full Name: | amylase, alpha 2B (pancreatic) |
| Band: | 1p21.1 |
| Quick Links | Entrez ID:280; OMIM: 104660; Uniprot ID:AMY2B_HUMAN; ENSEMBL ID: ENSG00000197839; HGNC ID: 478 |
| 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 | 10 | 1 | 0 | 0 | 0 | 1 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000451 | 1 | 1p21.1 | 103952134 | 104318068 | 365934 | loss | external link | Gregory, 2009 |
| AutCNV0000450 | 1 | 1p21.1 | 103952134 | 104506957 | 554823 | loss | external link | Gregory, 2009 |
| AutCNV0000449 | 1 | 1p21.1 | 103687286 | 104318068 | 630782 | gain | external link | Gregory, 2009 |
| AutCNV0000448 | 1 | 1p21.1 | 103427497 | 104318068 | 890571 | loss | external link | Gregory, 2009 |
| AutCNV0000447 | 1 | 1p21.1 | 103309629 | 104318068 | 1008439 | loss | external link | Gregory, 2009 |
| AutCNV0000456 | 1 | 1p21.1 | 103952134 | 104318068 | 365934 | loss | external link | Gregory, 2009 |
| AutCNV0000455 | 1 | 1p21.1 | 103952134 | 104318068 | 365934 | loss | external link | Gregory, 2009 |
| AutCNV0000454 | 1 | 1p21.1 | 103952134 | 104197379 | 245245 | loss | external link | Gregory, 2009 |
| AutCNV0000453 | 1 | 1p21.1 | 103952134 | 104318068 | 365934 | gain | external link | Gregory, 2009 |
| AutCNV0000452 | 1 | 1p21.1 | 103952134 | 104197379 | 245245 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 104121995 | G | S | Sanger sequencing | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000045 | 1p21.1 | 1 | D1S1631 | 3.44 | - | - | Risch, 1999 |