Variant Details for SLC35A1
Basic Information Top
| Gene Symbol: | SLC35A1 ( CDG2F,CMPST,CST,FLJ76955,hCST ) |
|---|---|
| Gene Full Name: | solute carrier family 35 (CMP-sialic acid transporter), member A1 |
| Band: | 6q15 |
| Quick Links | Entrez ID:10559; OMIM: 605634; Uniprot ID:S35A1_HUMAN; ENSEMBL ID: ENSG00000164414; HGNC ID: 11021 |
| 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 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005828 | 6 | 6q15 | 88234016 | 88350126 | 116110 | gain | external link | Egger G, 2014 |
| AutCNV0004868 | 6 | 6q14.1-q15 | 83648997 | 88613065 | 4964068 | loss | external link | Quintela I, 2015 |
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 | 88210320 | G | T | c.289G>T | p.Val97Leu | Not_tested | deleterious | 0.992 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000099 | 6q15 | 6 | rs654559 | 2.49 | - | - | Ma, 2007 |