Variant Details for SMC6
Basic Information Top
| Gene Symbol: | SMC6 ( FLJ22116,FLJ35534,SMC-6,SMC6L1,hSMC6 ) |
|---|---|
| Gene Full Name: | structural maintenance of chromosomes 6 |
| Band: | 2p24.2 |
| Quick Links | Entrez ID:79677; OMIM: 609387; Uniprot ID:SMC6_HUMAN; ENSEMBL ID: ENSG00000163029; HGNC ID: 20466 |
| 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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000201 | 2 | 2p24.2 | 17406569 | 18378435 | 971866 | gain | external link | Christian, 2008 |
| AutCNV0003471 | 2 | 2p24.2 | 17426034 | 17879411 | 453377 | gain | external link | Gai, 2011 |
| AutCNV0003470 | 2 | 2p24.2 | 17415773 | 17879411 | 463638 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 17877683 | T | G | PCR or Sanger sequencing | deleterious | 0.2349 | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000151 | 2p25.3-p24.1 | 2 | rs792065 | 1.87 | - | - | Allen-Brady, 2010 |