Variant Details for ATP2B2
Basic Information Top
| Gene Symbol: | ATP2B2 ( PMCA2,PMCA2a,PMCA2i ) |
|---|---|
| Gene Full Name: | ATPase, Ca++ transporting, plasma membrane 2 |
| Band: | 3p25.3 |
| Quick Links | Entrez ID:491; OMIM: 108733; Uniprot ID:AT2B2_HUMAN; ENSEMBL ID: ENSG00000157087; HGNC ID: 815 |
| 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 | 2 | 0 | 0 | 0 | 3 | 5 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 10381972 | C | T | c.3191G>A | p.Trp1064* | Sanger sequencing | Takata A, 2018 | ||
| 3 | 10392130 | G | T | c.2268C>A | p.Cys756* | Sanger sequencing | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000120 | 3p25.3 | 3 | D3S3680 | 1.51 | - | - | Shao, 2002 |
| AutLD0000001 | 3p25.3 | 3 | D3S3691 | 1.76 | - | - | McCauley, 2005 |
| AutLD0000128 | 3p25.3 | 3 | D3S3594 | - | - | 0.00007 | Lauritsen, 2006 |