Variant Details for SLC43A2


Gene Symbol: | SLC43A2 ( FLJ23848,LAT4,MGC34680 ) |
---|---|
Gene Full Name: | solute carrier family 43, member 2 |
Band: | 17p13.3 |
Quick Links | Entrez ID:124935; OMIM: 610791; Uniprot ID:LAT4_HUMAN; ENSEMBL ID: ENSG00000167703; HGNC ID: 23087 |
Relate to Another Database: | SFARIGene; denovo-db |


Click 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 | 0 | 0 | 0 | 2 |


CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000373 | 17 | 17p13.3 | 0 | 3653251 | 3653251 | external link | Zwaag, 2009 | |
AutCNV0005630 | 17 | 17 | Krumm N, 2015 |


iFish (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 |
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No related data! |


Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
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No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
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No related data! |