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MSeqDR Data Summary for the Term COQ2:
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
ENSG00000173085 MSeqDR Search EnsemblCOQ213236ENSG00000173085ENST00000503391ENSP00000426242coenzyme Q2 4-hydroxybenzoate polyprenyltransferase [Source:HGNC Symbol;Acc:25223]48418268984206067-1q21.238418268984205948COQ2COQ2-002HGNC SymbolHGNC transcript name639.35protein_codingnonsense_mediated_decayensembl_havaensembl_havaKNOWNKNOWN2723525223COQ227524


MSeqDR Master Exome Data Set M1: 112 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1484185015TAENST00000311469ENSG000001730858418268984206067ENSP00000310873COQ2-1COQ2_HUMAN--3'_UTRrs1458016800.01243-----het19
2484185015TAENST00000311469ENSG000001730858418268984206067ENSP00000310873COQ2-1COQ2_HUMAN--3'_UTRrs1458016800.01243-----hom1
3484185015TAENST00000439031ENSG000001730858418268984206067ENSP00000409275COQ2-1COQ2_HUMAN--3'_UTRrs1458016800.01243-----het19
4484185015TAENST00000439031ENSG000001730858418268984206067ENSP00000409275COQ2-1COQ2_HUMAN--3'_UTRrs1458016800.01243-----hom1
5484185015TAENST00000503915ENSG000001730858418268984206067ENSP00000427146COQ2-1---3'_UTRrs1458016800.01243-----het19
6484185015TAENST00000503915ENSG000001730858418268984206067ENSP00000427146COQ2-1---3'_UTRrs1458016800.01243-----hom1
7484185084GAENST00000311469ENSG000001730858418268984206067ENSP00000310873COQ2-1COQ2_HUMAN--3'_UTRrs1893114090.0014-----het1
8484185084GAENST00000439031ENSG000001730858418268984206067ENSP00000409275COQ2-1COQ2_HUMAN--3'_UTRrs1893114090.0014-----het1
9484185084GAENST00000503915ENSG000001730858418268984206067ENSP00000427146COQ2-1---3'_UTRrs1893114090.0014-----het1
10484185201TCENST00000311469ENSG000001730858418268984206067ENSP00000310873COQ2-1COQ2_HUMAN--3'_UTRNA------het1
11484185201TCENST00000439031ENSG000001730858418268984206067ENSP00000409275COQ2-1COQ2_HUMAN--3'_UTRNA------het1
12484185201TCENST00000503915ENSG000001730858418268984206067ENSP00000427146COQ2-1---3'_UTRNA------het1
13484185299CTENST00000311469ENSG000001730858418268984206067ENSP00000310873COQ2-1COQ2_HUMAN--3'_UTRrs1437716890.01841-----het18
14484185299CTENST00000439031ENSG000001730858418268984206067ENSP00000409275COQ2-1COQ2_HUMAN--3'_UTRrs1437716890.01841-----het18
15484185299CTENST00000503915ENSG000001730858418268984206067ENSP00000427146COQ2-1---3'_UTRrs1437716890.01841-----het18
16484185440AGENST00000311469ENSG000001730858418268984206067ENSP00000310873COQ2-1COQ2_HUMANc.1178T>Cp.V393Anon-synrs1481564620.0099--DAMAGING--het1
17484185440AGENST00000439031ENSG000001730858418268984206067ENSP00000409275COQ2-1COQ2_HUMANc.1067T>Cp.V356Anon-synrs1481564620.0099--DAMAGING--het1
18484185440AGENST00000503915ENSG000001730858418268984206067ENSP00000427146COQ2-1---3'_UTRrs1481564620.0099--DAMAGING--het1
19484187969CTENST00000311461ENSG000001730858418268984206067ENSP00000311835COQ2-1---3'_UTRrs1159590280.00275-----het5
20484188073AGENST00000311461ENSG000001730858418268984206067ENSP00000311835COQ2-1---3'_UTRNA------het2
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       Transcripts and variants in the surrounding COQ2 4:84182689..84206067 region Gbrowse