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MSeqDR Data Summary for the Term TACO1:
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
ENSG00000136463 MSeqDR Search EnsemblTACO11119ENSG00000136463ENST00000258975ENSP00000258975translational activator of mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:24316]1761678231616857251q23.36167823161685725TACO1TACO1-001HGNC SymbolHGNC transcript name249.33protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN5120424316TACO1NM_01636027509


MSeqDR Master Exome Data Set M1: 10 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11761682008CAENST00000258975ENSG000001364636167823161685725ENSP00000258975TACO11TACO1_HUMAN--+8bp 5'_splice_siteNA------het2
21761682008CAENST00000581120ENSG000001364636167823161685725-TACO11---+8bp 5'_splice_siteNA------het2
31761683718GAENST00000258975ENSG000001364636167823161685725ENSP00000258975TACO11TACO1_HUMANc.433G>Ap.G145Snon-synrs352524240.0368A=2/G=8598;A=193/G=4213;A=195/G=12811lod=208:540DAMAGINGD-het9
41761683718GAENST00000581120ENSG000001364636167823161685725-TACO11-c.635G>Ap.W212*non-synrs352524240.0368A=2/G=8598;A=193/G=4213;A=195/G=12811lod=208:540DAMAGINGD-het9
51761683783TCENST00000258975ENSG000001364636167823161685725ENSP00000258975TACO11TACO1_HUMANc.498T>Cp.H166Hsynrs175497320.00093C=31/T=8569;C=3/T=4403;C=34/T=12972lod=118:479---het7
61761683783TCENST00000581120ENSG000001364636167823161685725-TACO11-c.700T>Cp.Y234Hnon-synrs175497320.00093C=31/T=8569;C=3/T=4403;C=34/T=12972lod=118:479---het7
71761683854CAENST00000581120ENSG000001364636167823161685725-TACO11-c.771C>Ap.F257Lnon-synrs201718060------het4
81761683854CAENST00000581120ENSG000001364636167823161685725-TACO11-c.771C>Ap.F257Lnon-synrs201718060------hom1
91761684629TAENST00000258975ENSG000001364636167823161685725ENSP00000258975TACO11TACO1_HUMAN---18bp 3'_splice_siters1380662380.00278A=45/T=8555;A=3/T=4403;A=48/T=12958----het5
101761684629TAENST00000581120ENSG000001364636167823161685725-TACO11-c.1546T>Ap.C516Snon-synrs1380662380.00278A=45/T=8555;A=3/T=4403;A=48/T=12958----het5
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       Transcripts and variants in the surrounding TACO1 17:61678231..61685725 region Gbrowse