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MSeqDR Data Summary for the Term TBX5:
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
ENSG00000089225 MSeqDR Search EnsemblTBX50032ENSG00000089225ENST00000349716ENSP00000337723T-box 5 [Source:HGNC Symbol;Acc:11604]12114791736114846247-1q24.21114791736114846192TBX5TBX5-003HGNC SymbolHGNC transcript name545.85protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN691011604TBX5NM_08071727519


MSeqDR Master Exome Data Set M1: 140 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
112114791891ACENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRNA------het1
212114791891ACENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRNA------het1
312114791951G-AENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs35534655------het149
412114791951G-AENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs35534655------hom56
512114791951G-AENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs35534655------het149
612114791951G-AENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs35534655------hom56
712114792001G-AENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs201166554------het6
812114792001G-AENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs201166554------het6
912114792236TCENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs64899560.79282-----het59
1012114792236TCENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs64899560.79282-----hom122
1112114792236TCENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs64899560.79282-----het59
1212114792236TCENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs64899560.79282-----hom122
1312114792428TCENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs1843608380.00735-----het1
1412114792428TCENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs1843608380.00735-----het1
1512114792525GAENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs1435118780.0183-----het8
1612114792525GAENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs1435118780.0183-----het8
1712114792598AGENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs1174140570.0101-----het2
1812114792598AGENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs1174140570.0101-----het2
1912114792620GAENST00000310346ENSG00000089225114791736114846247ENSP00000309913TBX5-1TBX5_HUMAN--3'_UTRrs1483460890.0015-----het1
2012114792620GAENST00000349716ENSG00000089225114791736114846247ENSP00000337723TBX5-1---3'_UTRrs1483460890.0015-----het1
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       Transcripts and variants in the surrounding TBX5 12:114791736..114846247 region Gbrowse