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MSeqDR Data Summary for the Term COX6B1:
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
ENSG00000126267 MSeqDR Search EnsemblCOX6B11106ENSG00000126267ENST00000246554ENSP00000246554cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) [Source:HGNC Symbol;Acc:2280]1936139125361497631q13.123613912536149763COX6B1COX6B1-003HGNC SymbolHGNC transcript name449.06protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN13402280COX6B1NM_00186327526


MSeqDR Master Exome Data Set M1: 31 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11936139687GCENST00000592141ENSG000001262673613912536149763ENSP00000466818COX6B11CX6B1_HUMAN--5'_UTRrs1142843050.0837-----het8
21936139797TCENST00000392201ENSG000001262673613912536149763ENSP00000376037COX6B11CX6B1_HUMAN--5'_UTRrs200541140-C=5/T=3977;C=0/T=1752;C=5/T=5729----het3
31936139797TCENST00000592141ENSG000001262673613912536149763ENSP00000466818COX6B11CX6B1_HUMAN--+2bp 5'_splice_siters200541140-C=5/T=3977;C=0/T=1752;C=5/T=5729----het3
41936142176AGENST00000246554ENSG000001262673613912536149763ENSP00000246554COX6B11CX6B1_HUMANc.31A>Gp.N11Dnon-synNA--lod=523:638TOLERATEDP-het2
51936142176AGENST00000392201ENSG000001262673613912536149763ENSP00000376037COX6B11CX6B1_HUMANc.31A>Gp.N11Dnon-synNA--lod=523:638TOLERATEDP-het2
61936142176AGENST00000590618ENSG000001262673613912536149763ENSP00000467776COX6B11-c.19A>Gp.N7Dnon-synNA--lod=523:638TOLERATEDP-het2
71936142176AGENST00000592141ENSG000001262673613912536149763ENSP00000466818COX6B11CX6B1_HUMANc.31A>Gp.N11Dnon-synNA--lod=523:638TOLERATEDP-het2
81936142187CTENST00000246554ENSG000001262673613912536149763ENSP00000246554COX6B11CX6B1_HUMANc.42C>Tp.T14Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---het125
91936142187CTENST00000246554ENSG000001262673613912536149763ENSP00000246554COX6B11CX6B1_HUMANc.42C>Tp.T14Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---hom8
101936142187CTENST00000392201ENSG000001262673613912536149763ENSP00000376037COX6B11CX6B1_HUMANc.42C>Tp.T14Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---het125
111936142187CTENST00000392201ENSG000001262673613912536149763ENSP00000376037COX6B11CX6B1_HUMANc.42C>Tp.T14Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---hom8
121936142187CTENST00000590618ENSG000001262673613912536149763ENSP00000467776COX6B11-c.30C>Tp.T10Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---het125
131936142187CTENST00000590618ENSG000001262673613912536149763ENSP00000467776COX6B11-c.30C>Tp.T10Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---hom8
141936142187CTENST00000592141ENSG000001262673613912536149763ENSP00000466818COX6B11CX6B1_HUMANc.42C>Tp.T14Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---het125
151936142187CTENST00000592141ENSG000001262673613912536149763ENSP00000466818COX6B11CX6B1_HUMANc.42C>Tp.T14Tsynrs79910.2346T=664/C=7936;T=903/C=3503;T=1567/C=11439lod=523:638---hom8
161936142210CGENST00000246554ENSG000001262673613912536149763ENSP00000246554COX6B11CX6B1_HUMANc.65C>Gp.P22Rnon-synNA--lod=523:638DAMAGINGD-het2
171936142210CGENST00000392201ENSG000001262673613912536149763ENSP00000376037COX6B11CX6B1_HUMANc.65C>Gp.P22Rnon-synNA--lod=523:638DAMAGINGD-het2
181936142210CGENST00000590618ENSG000001262673613912536149763ENSP00000467776COX6B11-c.53C>Gp.P18Rnon-synNA--lod=523:638DAMAGINGD-het2
191936142210CGENST00000592141ENSG000001262673613912536149763ENSP00000466818COX6B11CX6B1_HUMANc.65C>Gp.P22Rnon-synNA--lod=523:638DAMAGINGD-het2
201936145457AGENST00000246554ENSG000001262673613912536149763ENSP00000246554COX6B11CX6B1_HUMAN---16bp 3'_splice_siters1877404870.00092G=19/A=8581;G=0/A=4406;G=19/A=12987----hom1
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       Transcripts and variants in the surrounding COX6B1 19:36139125..36149763 region Gbrowse