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MSeqDR Data Summary for the Term ENSG00000229833:
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
ENSG00000229833 MSeqDR Search EnsemblPET100172ENSG00000229833ENST00000594797ENSP00000470539PET100 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:40038]19769462376968421p13.276946237696842PET100PET100-001HGNC SymbolHGNC transcript name655.95protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN10013180140038PET100NM_00117115527526


MSeqDR Master Exome Data Set M1: 84 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1197694623AGENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMAN--5'_UTRNA------het1
2197694633AGENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMAN--5'_UTRNA------het1
3197694646ACENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMAN--5'_UTRNA------het1
4197694662TCENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMAN--5'_UTRrs37606750.3289-----hom4
5197694662TCENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMAN--5'_UTRrs37606750.3289-----het48
6197694671GTENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMAN--5'_UTRNA-T=3/G=3179;T=0/G=1384;T=3/G=4563----het1
7197694772GAENST00000602109ENSG0000022983376946237696842-PET1001-c.78G>Ap.G26GsynNA-A=6/G=3176;A=1/G=1383;A=7/G=4559----het1
8197694819GTENST00000602109ENSG0000022983376946237696842-PET1001-c.125G>Tp.W42Lnon-synNA------het2
9197695336AGENST00000602109ENSG0000022983376946237696842-PET1001-c.642A>Gp.G214Gsynrs37606760.34813-----het89
10197695336AGENST00000602109ENSG0000022983376946237696842-PET1001-c.642A>Gp.G214Gsynrs37606760.34813-----hom51
11197695505AGENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMANc.74A>Gp.N25Snon-synrs1843258540.003G=8/A=3174;G=0/A=1384;G=8/A=4558lod=207:539DAMAGING--het5
12197695505AGENST00000598540ENSG0000022983376946237696842ENSP00000470314PET1001-c.69A>Gp.Q23Qsynrs1843258540.003G=8/A=3174;G=0/A=1384;G=8/A=4558lod=207:539DAMAGING--het5
13197695505AGENST00000600836ENSG0000022983376946237696842-PET1001-c.95A>Gp.N32Snon-synrs1843258540.003G=8/A=3174;G=0/A=1384;G=8/A=4558lod=207:539DAMAGING--het5
14197695505AGENST00000601406ENSG0000022983376946237696842ENSP00000470935PET1001-c.74A>Gp.N25Snon-synrs1843258540.003G=8/A=3174;G=0/A=1384;G=8/A=4558lod=207:539DAMAGING--het5
15197695505AGENST00000601829ENSG0000022983376946237696842-PET1001-c.84A>Gp.Q28Qsynrs1843258540.003G=8/A=3174;G=0/A=1384;G=8/A=4558lod=207:539DAMAGING--het5
16197695505AGENST00000602109ENSG0000022983376946237696842-PET1001-c.811A>Gp.I271Vnon-synrs1843258540.003G=8/A=3174;G=0/A=1384;G=8/A=4558lod=207:539DAMAGING--het5
17197695513GAENST00000594797ENSG0000022983376946237696842ENSP00000470539PET1001PT100_HUMANc.82G>Ap.E28Knon-synrs41348040.0089A=0/G=3182;A=20/G=1364;A=20/G=4546lod=207:539DAMAGING--het3
18197695513GAENST00000598540ENSG0000022983376946237696842ENSP00000470314PET1001-c.77G>Ap.R26Qnon-synrs41348040.0089A=0/G=3182;A=20/G=1364;A=20/G=4546lod=207:539DAMAGING--het3
19197695513GAENST00000600836ENSG0000022983376946237696842-PET1001-c.103G>Ap.E35Knon-synrs41348040.0089A=0/G=3182;A=20/G=1364;A=20/G=4546lod=207:539DAMAGING--het3
20197695513GAENST00000601406ENSG0000022983376946237696842ENSP00000470935PET1001-c.82G>Ap.E28Knon-synrs41348040.0089A=0/G=3182;A=20/G=1364;A=20/G=4546lod=207:539DAMAGING--het3
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       Transcripts and variants in the surrounding PET100 19:7694623..7696842 region Gbrowse