Variant Details for OR2M2
Basic Information Top
| Gene Symbol: | OR2M2 ( OR2M2Q,OST423 ) |
|---|---|
| Gene Full Name: | olfactory receptor, family 2, subfamily M, member 2 |
| Band: | 1q44 |
| Quick Links | Entrez ID:391194; OMIM: NA; Uniprot ID:OR2M2_HUMAN; ENSEMBL ID: ENSG00000198601; HGNC ID: 8268 |
| 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 | 2 | 0 | 0 | 1 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004039 | 1 | 1q44 | 247385125 | 248837803 | 1452678 | loss | external link | Levy, 2011 |
| AutCNV0003132 | 1 | 1q44 | 247861516 | 248439206 | 577690 | loss | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 248343799 | C | G | c.512C>G | p.Ser171Cys | deleterious | 0.5484 | Bi C, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000046 | 1q44 | 1 | D1S1609 | 2.41 | - | - | Risch, 1999 |