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MSeqDR Data Summary for the Term ENSG00000147123:
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
ENSG00000147123 MSeqDR Search EnsemblNDUFB11122ENSG00000147123ENST00000377811ENSP00000367042NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa [Source:HGNC Symbol;Acc:20372]X4700161547004903-1p11.234700161547004903NDUFB11NDUFB11-001HGNC SymbolHGNC transcript name252.3protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN5453920372NDUFB11NM_00113599827516


MSeqDR Master Exome Data Set M1: 17 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1X47001686GAENST00000276062ENSG000001471234700161547004903ENSP00000276062NDUFB11-1NDUBB_HUMAN--3'_UTRrs200655969------het1
2X47001686GAENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--3'_UTRrs200655969------het1
3X47002101CTENST00000276062ENSG000001471234700161547004903ENSP00000276062NDUFB11-1NDUBB_HUMANc.250G>Ap.V84Inon-synrs1864694640.00191T=1/C=6727;T=0/C=3835;T=1/C=10562lod=56:399TOLERATEDB-het1
4X47002101CTENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMANc.250G>Ap.V84Inon-synrs1864694640.00191T=1/C=6727;T=0/C=3835;T=1/C=10562lod=56:399TOLERATEDB-het1
5X47003860C-CCGENST00000276062ENSG000001471234700161547004903ENSP00000276062NDUFB11-1NDUBB_HUMAN--+9bp 5'_splice_siteNA------hom2
6X47003860C-CCGENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--+9bp 5'_splice_siteNA------hom2
7X47003865C-TCTENST00000276062ENSG000001471234700161547004903ENSP00000276062NDUFB11-1NDUBB_HUMAN--+4bp 5'_splice_siteNA--lod=70:423---hom2
8X47003865C-TCTENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--+4bp 5'_splice_siteNA--lod=70:423---hom2
9X47004213AGENST00000276062ENSG000001471234700161547004903ENSP00000276062NDUFB11-1NDUBB_HUMAN--5'_UTRrs1839702960.0123-----het16
10X47004213AGENST00000276062ENSG000001471234700161547004903ENSP00000276062NDUFB11-1NDUBB_HUMAN--5'_UTRrs1839702960.0123-----hom5
11X47004213AGENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--5'_UTRrs1839702960.0123-----het16
12X47004213AGENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--5'_UTRrs1839702960.0123-----hom5
13X47004755CGENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--5'_UTRNA------het3
14X47004838CTENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--5'_UTRrs120084220.0252-lod=210:541---het1
15X47004838CTENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--5'_UTRrs120084220.0252-lod=210:541---hom1
16X47004861TCENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--5'_UTRrs59524190.2191-lod=210:541---hom2
17X47004861TCENST00000377811ENSG000001471234700161547004903ENSP00000367042NDUFB11-1NDUBB_HUMAN--5'_UTRrs59524190.2191-lod=210:541---het8
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       Transcripts and variants in the surrounding NDUFB11 X:47001615..47004903 region Gbrowse