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MSeqDR Data Summary for the Term NDUFS3:
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
ENSG00000213619 MSeqDR Search EnsemblNDUFS311810ENSG00000213619ENST00000533507NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]1147586888476061141p11.24758688847606113NDUFS3NDUFS3-003HGNC SymbolHGNC transcript name1348.67protein_codingprocessed_transcriptensembl_havahavanaKNOWNKNOWN47227710NDUFS327504

MSeqDR Master Exome Data Set M1: 90 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11147586968AGENST00000533507ENSG000002136194758688847606114-NDUFS31-c.81A>Gp.E27Esynrs79336740.9984-----hom610
21147586968AGENST00000533507ENSG000002136194758688847606114-NDUFS31-c.81A>Gp.E27Esynrs79336740.9984-----het1
31147587057TGENST00000533507ENSG000002136194758688847606114-NDUFS31-c.170T>Gp.V57Gnon-synrs1831711440.0055-----het4
41147587062GAENST00000533507ENSG000002136194758688847606114-NDUFS31-c.175G>Ap.A59Tnon-synrs110393000.8668-----het154
51147587062GAENST00000533507ENSG000002136194758688847606114-NDUFS31-c.175G>Ap.A59Tnon-synrs110393000.8668-----hom470
61147587062GCENST00000533507ENSG000002136194758688847606114-NDUFS31-c.175G>Cp.A59Pnon-synNA------het3
71147587147CTENST00000533507ENSG000002136194758688847606114-NDUFS31-c.260C>Tp.P87Lnon-synrs1889819910.0343-----het4
81147587171CGENST00000533507ENSG000002136194758688847606114-NDUFS31-c.284C>Gp.P95Rnon-synNA------het3
91147587243CGENST00000533507ENSG000002136194758688847606114-NDUFS31-c.356C>Gp.P119Rnon-synrs1437668620.0173G=18/C=7194;G=134/C=3000;G=152/C=10194----het17
101147587452CTENST00000533507ENSG000002136194758688847606114-NDUFS31----6bp 3'_splice_siters115377510.0543T=411/C=7973;T=39/C=4061;T=450/C=12034lod=74:429DAMAGING--het94
111147587452CTENST00000533507ENSG000002136194758688847606114-NDUFS31----6bp 3'_splice_siters115377510.0543T=411/C=7973;T=39/C=4061;T=450/C=12034lod=74:429DAMAGING--hom3
121147587505GCENST00000533507ENSG000002136194758688847606114-NDUFS31-c.509G>Cp.S170Tnon-synNA--lod=238:554TOLERATEDP-het2
131147587548CGENST00000533507ENSG000002136194758688847606114-NDUFS31---+10bp 5'_splice_siters789110740.1127G=6/C=8256;G=521/C=3395;G=527/C=11651----het11
141147593061CTENST00000533507ENSG000002136194758688847606114-NDUFS31-c.581C>Tp.S194Lnon-synrs617405490.0158T=1/C=8287;T=50/C=3806;T=51/C=12093lod=129:489DAMAGING--het2
151147593180GCENST00000533507ENSG000002136194758688847606114-NDUFS31-c.700G>Cp.D234Hnon-synrs190036505-C=35/G=8199;C=4/G=3740;C=39/G=11939-TOLERATEDNA-het5
161147600620C-TENST00000263774ENSG000002136194758688847606114ENSP00000263774NDUFS31NDUS3_HUMAN--5'_UTRNA------het3
171147600620C-TENST00000528192ENSG000002136194758688847606114ENSP00000432099NDUFS31---5'_UTRNA------het3
181147600620C-TENST00000529276ENSG000002136194758688847606114ENSP00000433753NDUFS31---5'_UTRNA------het3
191147600756TCENST00000524568ENSG000002136194758688847606114-NDUFS31-c.106T>Cp.C36Rnon-synrs2233349------het1
201147600756TCENST00000533105ENSG000002136194758688847606114-NDUFS31-c.120T>Cp.R40Rsynrs2233349------het1
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       Transcripts and variants in the surrounding NDUFS3 11:47586888..47606114 region Gbrowse