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MSeqDR Data Summary for the Term ENSG00000158864:
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
ENSG00000158864 MSeqDR Search EnsemblNDUFS214828ENSG00000158864ENST00000479948NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7708]11611668941611841851q23.3161166894161176383NDUFS2NDUFS2-002HGNC SymbolHGNC transcript name1649.73protein_codingprocessed_transcriptensembl_havahavanaKNOWNKNOWN47207708NDUFS227511


MSeqDR Master Exome Data Set M1: 245 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11161171895TCENST00000496553ENSG00000158864161166894161184185-NDUFS21-c.60T>Cp.S20SsynNA------het1
21161171953CGENST00000367993ENSG00000158864161166894161184185ENSP00000356972NDUFS21NDUS2_HUMAN--5'_UTRrs741246610.0176-----het1
31161171953CGENST00000392179ENSG00000158864161166894161184185ENSP00000376018NDUFS21NDUS2_HUMAN--5'_UTRrs741246610.0176-----het1
41161171953CGENST00000479948ENSG00000158864161166894161184185-NDUFS21-c.70C>Gp.L24Vnon-synrs741246610.0176-----het1
51161171953CGENST00000496133ENSG00000158864161166894161184185-NDUFS21-c.86C>Gp.A29Gnon-synrs741246610.0176-----het1
61161171953CGENST00000496553ENSG00000158864161166894161184185-NDUFS21-c.118C>Gp.L40Vnon-synrs741246610.0176-----het1
71161171958GAENST00000367993ENSG00000158864161166894161184185ENSP00000356972NDUFS21NDUS2_HUMAN--5'_UTRNA------het1
81161171958GAENST00000392179ENSG00000158864161166894161184185ENSP00000376018NDUFS21NDUS2_HUMAN--5'_UTRNA------het1
91161171958GAENST00000479948ENSG00000158864161166894161184185-NDUFS21-c.75G>Ap.W25*non-synNA------het1
101161171958GAENST00000496133ENSG00000158864161166894161184185-NDUFS21-c.91G>Ap.G31Rnon-synNA------het1
111161171958GAENST00000496553ENSG00000158864161166894161184185-NDUFS21-c.123G>Ap.W41*non-synNA------het1
121161172156CTENST00000367993ENSG00000158864161166894161184185ENSP00000356972NDUFS21NDUS2_HUMAN--5'_UTRrs201554004-T=26/C=8572;T=1/C=4403;T=27/C=12975----het2
131161172156CTENST00000392179ENSG00000158864161166894161184185ENSP00000376018NDUFS21NDUS2_HUMAN--5'_UTRrs201554004-T=26/C=8572;T=1/C=4403;T=27/C=12975----het2
141161172156CTENST00000467295ENSG00000158864161166894161184185-NDUFS21-c.18C>Tp.R6Rsynrs201554004-T=26/C=8572;T=1/C=4403;T=27/C=12975----het2
151161172156CTENST00000479948ENSG00000158864161166894161184185-NDUFS21-c.273C>Tp.R91Rsynrs201554004-T=26/C=8572;T=1/C=4403;T=27/C=12975----het2
161161172156CTENST00000496133ENSG00000158864161166894161184185-NDUFS21-c.289C>Tp.Q97*non-synrs201554004-T=26/C=8572;T=1/C=4403;T=27/C=12975----het2
171161172156CTENST00000496553ENSG00000158864161166894161184185-NDUFS21-c.321C>Tp.R107Rsynrs201554004-T=26/C=8572;T=1/C=4403;T=27/C=12975----het2
181161172233CAENST00000367993ENSG00000158864161166894161184185ENSP00000356972NDUFS21NDUS2_HUMANc.58C>Ap.P20Tnon-synrs115383400.0718A=681/C=7917;A=282/C=4122;A=963/C=12039lod=16:265DAMAGINGB-het134
191161172233CAENST00000367993ENSG00000158864161166894161184185ENSP00000356972NDUFS21NDUS2_HUMANc.58C>Ap.P20Tnon-synrs115383400.0718A=681/C=7917;A=282/C=4122;A=963/C=12039lod=16:265DAMAGINGB-hom4
201161172233CAENST00000392179ENSG00000158864161166894161184185ENSP00000376018NDUFS21NDUS2_HUMANc.58C>Ap.P20Tnon-synrs115383400.0718A=681/C=7917;A=282/C=4122;A=963/C=12039lod=16:265DAMAGINGB-het134
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       Transcripts and variants in the surrounding NDUFS2 1:161166894..161184185 region Gbrowse