Variant Details for GCNT2
Basic Information Top
| Gene Symbol: | GCNT2 ( CCAT,GCNT2C,GCNT5,IGNT,II,MGC163396,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1 ) |
|---|---|
| Gene Full Name: | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
| Band: | 6p24.3-p24.2 |
| Quick Links | Entrez ID:2651; OMIM: 600429; Uniprot ID:GNT2A_HUMAN; ENSEMBL ID: ENSG00000111846; HGNC ID: 4204 |
| 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 | 6 | 2 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000071 | 6 | 6p22.3-25.2 | 3856431 | 18486521 | 14630090 | loss | external link | Szatmari, 2007 |
| AutCNV0000354 | 6 | 6p24.3-24.2 | 7055001 | 11092014 | 4037013 | external link | Zwaag, 2009 | |
| AutCNV0002577 | 6 | 6p24.2-24.3 | 10488601 | 10564404 | 75803 | loss | external link | Pinto, 2010 |
| AutCNV0002576 | 6 | 6p24.2-24.3 | 10469826 | 10528794 | 58968 | loss | external link | Pinto, 2010 |
| AutCNV0001790 | 6 | 6p24.2 | 10518350 | 10571992 | 53642 | loss | external link | Pinto, 2010 |
| AutCNV0001053 | 6 | 6p24.2-24.3 | 10467753 | 10528794 | 61041 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 10529778 | G | A | PCR or Sanger sequencing | deleterious | 0.9361 | Iossifov I, 2014 | ||
| 6 | 10586330 | G | T | PCR or Sanger sequencing | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||