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MSeqDR Data Summary for the Term NDUFAF3:
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
ENSG00000178057 MSeqDR Search EnsemblNDUFAF312610ENSG00000178057ENST00000326912ENSP00000323003NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 [Source:HGNC Symbol;Acc:29918]349057892490609281p21.314905789249060720NDUFAF3NDUFAF3-003HGNC SymbolHGNC transcript name664.14protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN2591529918NDUFAF3NM_19907427517


MSeqDR Master Exome Data Set M1: 42 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1349058764GAENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA--lod=50:387---het1
2349058764GAENST00000395458ENSG000001780574905789249060928ENSP00000378843NDUFAF31NDUF3_HUMAN--5'_UTRNA--lod=50:387---het1
3349058793GTENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRrs729347910.1587-----hom2
4349058793GTENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRrs729347910.1587-----het15
5349058793GTENST00000395458ENSG000001780574905789249060928ENSP00000378843NDUFAF31NDUF3_HUMAN--5'_UTRrs729347910.1587-----hom2
6349058793GTENST00000395458ENSG000001780574905789249060928ENSP00000378843NDUFAF31NDUF3_HUMAN--5'_UTRrs729347910.1587-----het15
7349058887CGENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA------het2
8349058908CTENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA------het2
9349058908CTENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA------hom1
10349058913TCENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA0.0053-----het11
11349059044TAENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA------het1
12349059044TAENST00000451378ENSG000001780574905789249060928ENSP00000402465NDUFAF31NDUF3_HUMAN--5'_UTRNA------het1
13349059205GAENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA------het1
14349059205GAENST00000451378ENSG000001780574905789249060928ENSP00000402465NDUFAF31NDUF3_HUMAN--5'_UTRNA------het1
15349059231CAENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA------het2
16349059231CAENST00000451378ENSG000001780574905789249060928ENSP00000402465NDUFAF31NDUF3_HUMAN--+14bp 5'_splice_siteNA------het2
17349059337CTENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMAN--5'_UTRNA------het9
18349059911ACENST00000326912ENSG000001780574905789249060928ENSP00000323003NDUFAF31NDUF3_HUMANc.39A>Cp.I13Isynrs1420336920.0087C=0/A=8600;C=1/A=4405;C=1/A=13005lod=46:378---het4
19349059911ACENST00000326925ENSG000001780574905789249060928ENSP00000323076NDUFAF31NDUF3_HUMANc.210A>Cp.I70Isynrs1420336920.0087C=0/A=8600;C=1/A=4405;C=1/A=13005lod=46:378---het4
20349059911ACENST00000395458ENSG000001780574905789249060928ENSP00000378843NDUFAF31NDUF3_HUMANc.39A>Cp.I13Isynrs1420336920.0087C=0/A=8600;C=1/A=4405;C=1/A=13005lod=46:378---het4
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       Transcripts and variants in the surrounding NDUFAF3 3:49057892..49060928 region Gbrowse