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MSeqDR Data Summary for the Term NDUFS4:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000164258 MSeqDR Search EnsemblNDUFS412618ENSG00000164258ENST00000507026ENSP00000424993NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]552856463529791681q11.25285646352979049NDUFS4NDUFS4-003HGNC SymbolHGNC transcript name636.57protein_codingnonsense_mediated_decayensembl_havahavanaKNOWNKNOWN47247711NDUFS427527


MSeqDR Master Exome Data Set M1: 87 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1552856487ATENST00000296684ENSG000001642585285646352979168ENSP00000296684NDUFS41NDUS4_HUMAN--5'_UTRrs737542550.0136T=0/A=8600;T=113/A=4293;T=113/A=12893lod=122:483---het1
2552856487ATENST00000502423ENSG000001642585285646352979168ENSP00000422177NDUFS41---5'_UTRrs737542550.0136T=0/A=8600;T=113/A=4293;T=113/A=12893lod=122:483---het1
3552856487ATENST00000506974ENSG000001642585285646352979168ENSP00000425967NDUFS41---5'_UTRrs737542550.0136T=0/A=8600;T=113/A=4293;T=113/A=12893lod=122:483---het1
4552856487ATENST00000507026ENSG000001642585285646352979168ENSP00000424993NDUFS41---5'_UTRrs737542550.0136T=0/A=8600;T=113/A=4293;T=113/A=12893lod=122:483---het1
5552856504GCENST00000296684ENSG000001642585285646352979168ENSP00000296684NDUFS41NDUS4_HUMANc.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---het542
6552856504GCENST00000296684ENSG000001642585285646352979168ENSP00000296684NDUFS41NDUS4_HUMANc.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---hom357
7552856504GCENST00000502423ENSG000001642585285646352979168ENSP00000422177NDUFS41-c.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---het542
8552856504GCENST00000502423ENSG000001642585285646352979168ENSP00000422177NDUFS41-c.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---hom357
9552856504GCENST00000506974ENSG000001642585285646352979168ENSP00000425967NDUFS41-c.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---het542
10552856504GCENST00000506974ENSG000001642585285646352979168ENSP00000425967NDUFS41-c.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---hom357
11552856504GCENST00000507026ENSG000001642585285646352979168ENSP00000424993NDUFS41-c.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---het542
12552856504GCENST00000507026ENSG000001642585285646352979168ENSP00000424993NDUFS41-c.12G>Cp.V4Vsynrs22795160.6079C=5080/G=3520;C=3524/G=882;C=8604/G=4402lod=122:483---hom357
13552869553CTENST00000507026ENSG000001642585285646352979168ENSP00000424993NDUFS41---3'_UTRrs727501470.1692-----het64
14552869553CTENST00000507026ENSG000001642585285646352979168ENSP00000424993NDUFS41---3'_UTRrs727501470.1692-----hom9
15552899285GAENST00000296684ENSG000001642585285646352979168ENSP00000296684NDUFS41NDUS4_HUMANc.102G>Ap.S34Ssynrs1389410730.0028A=1/G=8599;A=26/G=4380;A=27/G=12979----het3
16552899285GAENST00000502423ENSG000001642585285646352979168ENSP00000422177NDUFS41-c.102G>Ap.S34Ssynrs1389410730.0028A=1/G=8599;A=26/G=4380;A=27/G=12979----het3
17552899285GAENST00000506765ENSG000001642585285646352979168ENSP00000424570NDUFS41-c.90G>Ap.S30Ssynrs1389410730.0028A=1/G=8599;A=26/G=4380;A=27/G=12979----het3
18552899285GAENST00000506974ENSG000001642585285646352979168ENSP00000425967NDUFS41-c.102G>Ap.S34Ssynrs1389410730.0028A=1/G=8599;A=26/G=4380;A=27/G=12979----het3
19552899285GAENST00000507026ENSG000001642585285646352979168ENSP00000424993NDUFS41---3'_UTRrs1389410730.0028A=1/G=8599;A=26/G=4380;A=27/G=12979----het3
20552942083ACENST00000296684ENSG000001642585285646352979168ENSP00000296684NDUFS41NDUS4_HUMANc.198A>Cp.G66Gsynrs313040.95238C=8303/A=297;C=4297/A=109;C=12600/A=406lod=348:595---het81
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       Transcripts and variants in the surrounding NDUFS4 5:52856463..52979168 region Gbrowse