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MSeqDR Data Summary for the Term ENSG00000198938:
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
ENSG00000198938 MSeqDR Search EnsemblMT-CO312557ENSG00000198938ENST00000362079ENSP00000354982mitochondrially encoded cytochrome c oxidase III [Source:HGNC Symbol;Acc:7422]M92079990192079990MT-CO3MT-CO3-201HGNC SymbolHGNC transcript name146.56protein_codingprotein_codinginsdcinsdcKNOWNKNOWN45147422MT-CO3100965601


MSeqDR Master Exome Data Set M1: 81 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1M9211CTENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.5C>Tp.T2Inon-synNA--lod=105:467---het2
2M9221AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.15A>Gp.S5Ssynrs7520428--lod=105:467---hom8
3M9233TCENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.27T>Cp.H9HsynNA--lod=53:393---hom2
4M9254AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.48A>Gp.W16Wsynrs2096045--lod=44:374---hom3
5M9261AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.55A>Gp.T19Anon-synNA--lod=23:304---het1
6M9266GAENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.60G>Ap.G20GsynNA--lod=23:304---hom11
7M9266GAENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.60G>Ap.G20GsynNA--lod=23:304---het2
8M9300GAENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.94G>Ap.A32Tnon-synrs9700408------hom6
9M9302CTENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.96C>Tp.A32AsynNA------hom2
10M9308AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.102A>Gp.W34WsynNA--lod=38:358---hom3
11M9323CTENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.117C>Tp.S39SsynNA------hom3
12M9335CTENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.129C>Tp.L43LsynNA------hom5
13M9347AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.141A>Gp.L47Lsynrs2853824------het1
14M9347AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.141A>Gp.L47Lsynrs2853824------hom8
15M9365CTENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.159C>Tp.T53TsynNA--lod=13:243---hom2
16M9368AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.162A>Gp.M54MsynNA--lod=15:259---hom2
17M9374AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.168A>Gp.Q56QsynNA--lod=100:461---hom1
18M9377AGENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.171A>Gp.W57Wsynrs112966229--lod=100:461---hom2
19M9380GAENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.174G>Ap.W58WsynNA--lod=100:461---hom9
20M9386TCENST00000362079ENSG0000019893892079990ENSP00000354982MT-CO31COX3_HUMANc.180T>Cp.D60DsynNA--lod=100:461---hom2
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       Transcripts and variants in the surrounding MT-CO3 M:9207..9990 region Gbrowse