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MSeqDR Data Summary for the Term TSC1:
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
ENSG00000165699 MSeqDR Search EnsemblTSC100683ENSG00000165699ENST00000298552ENSP00000298552tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]9135766735135820020-1q34.13135766735135820008TSC1TSC1-001HGNC SymbolHGNC transcript name842.78protein_codingprotein_codingensembl_havahavanaKNOWNKNOWN724812362TSC1NM_00116242627518


MSeqDR Master Exome Data Set M1: 387 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
19135766834TGENST00000298552ENSG00000165699135766735135820020ENSP00000298552TSC1-1TSC1_HUMAN--3'_UTRNA--lod=650:661---het2
29135766834TGENST00000440111ENSG00000165699135766735135820020ENSP00000394524TSC1-1TSC1_HUMAN--3'_UTRNA--lod=650:661---het2
39135766834TGENST00000545250ENSG00000165699135766735135820020ENSP00000444017TSC1-1TSC1_HUMAN--3'_UTRNA--lod=650:661---het2
49135766859AGENST00000298552ENSG00000165699135766735135820020ENSP00000298552TSC1-1TSC1_HUMAN--3'_UTRrs794700940.052-lod=650:661---het2
59135766859AGENST00000440111ENSG00000165699135766735135820020ENSP00000394524TSC1-1TSC1_HUMAN--3'_UTRrs794700940.052-lod=650:661---het2
69135766859AGENST00000545250ENSG00000165699135766735135820020ENSP00000444017TSC1-1TSC1_HUMAN--3'_UTRrs794700940.052-lod=650:661---het2
79135766990T-AENST00000298552ENSG00000165699135766735135820020ENSP00000298552TSC1-1TSC1_HUMAN--3'_UTRrs60000611--lod=310:582---het2
89135766990T-AENST00000440111ENSG00000165699135766735135820020ENSP00000394524TSC1-1TSC1_HUMAN--3'_UTRrs60000611--lod=310:582---het2
99135766990T-AENST00000545250ENSG00000165699135766735135820020ENSP00000444017TSC1-1TSC1_HUMAN--3'_UTRrs60000611--lod=310:582---het2
109135767175GAENST00000298552ENSG00000165699135766735135820020ENSP00000298552TSC1-1TSC1_HUMAN--3'_UTRrs112968492--lod=108:470---het2
119135767175GAENST00000440111ENSG00000165699135766735135820020ENSP00000394524TSC1-1TSC1_HUMAN--3'_UTRrs112968492--lod=108:470---het2
129135767175GAENST00000545250ENSG00000165699135766735135820020ENSP00000444017TSC1-1TSC1_HUMAN--3'_UTRrs112968492--lod=108:470---het2
139135767185CTENST00000298552ENSG00000165699135766735135820020ENSP00000298552TSC1-1TSC1_HUMAN--3'_UTRrs115537630.2155-lod=108:470---het115
149135767185CTENST00000298552ENSG00000165699135766735135820020ENSP00000298552TSC1-1TSC1_HUMAN--3'_UTRrs115537630.2155-lod=108:470---hom10
159135767185CTENST00000440111ENSG00000165699135766735135820020ENSP00000394524TSC1-1TSC1_HUMAN--3'_UTRrs115537630.2155-lod=108:470---het115
169135767185CTENST00000440111ENSG00000165699135766735135820020ENSP00000394524TSC1-1TSC1_HUMAN--3'_UTRrs115537630.2155-lod=108:470---hom10
179135767185CTENST00000545250ENSG00000165699135766735135820020ENSP00000444017TSC1-1TSC1_HUMAN--3'_UTRrs115537630.2155-lod=108:470---het115
189135767185CTENST00000545250ENSG00000165699135766735135820020ENSP00000444017TSC1-1TSC1_HUMAN--3'_UTRrs115537630.2155-lod=108:470---hom10
199135767374GAENST00000298552ENSG00000165699135766735135820020ENSP00000298552TSC1-1TSC1_HUMAN--3'_UTRNA------het1
209135767374GAENST00000440111ENSG00000165699135766735135820020ENSP00000394524TSC1-1TSC1_HUMAN--3'_UTRNA------het1
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       Transcripts and variants in the surrounding TSC1 9:135766735..135820020 region Gbrowse