Variant Details for SARS2
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Gene Symbol: | SARS2 ( FLJ20450,SARS,SARSM,SERS,SYS,SerRS,SerRSmt,mtSerRS ) |
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Gene Full Name: | seryl-tRNA synthetase 2, mitochondrial |
Band: | 19q13.2 |
Quick Links | Entrez ID:54938; OMIM: 612804; Uniprot ID:SYSM_HUMAN; ENSEMBL ID: ENSG00000104835; HGNC ID: 17697 |
Relate to Another Database: | SFARIGene; denovo-db |
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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 |
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Number | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
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CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
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AutCNV0000379 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
AutCNV0000378 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
AutCNV0000377 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
AutCNV0000376 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 |
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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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19 | 39406847 | G | A | strong | Iossifov I, 2014 |
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Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
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No related data! |
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Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
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No related data! |
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Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |
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Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
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No related data! |