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MSeqDR Data Summary for the Term ENSG00000110090:
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
ENSG00000110090 MSeqDR Search EnsemblCPT1A110150ENSG00000110090ENST00000540367ENSP00000439084carnitine palmitoyltransferase 1A (liver) [Source:HGNC Symbol;Acc:2328]116852208868611878-1q13.36852208868582971CPT1ACPT1A-001HGNC SymbolHGNC transcript name950.04protein_codingprotein_codingensembl_havahavanaKNOWNKNOWN13742328CPT1A27504


MSeqDR Master Exome Data Set M1: 238 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11168522113TCENST00000376618ENSG000001100906852208868611878ENSP00000365803CPT1A-1CPT1A_HUMAN--3'_UTRNA------het2
21168522113TCENST00000540367ENSG000001100906852208868611878ENSP00000439084CPT1A-1CPT1A_HUMAN--3'_UTRNA------het2
31168522216TCENST00000376618ENSG000001100906852208868611878ENSP00000365803CPT1A-1CPT1A_HUMAN--3'_UTRrs750229150.01447C=123/T=3059;C=11/T=1373;C=134/T=4432----het56
41168522216TCENST00000376618ENSG000001100906852208868611878ENSP00000365803CPT1A-1CPT1A_HUMAN--3'_UTRrs750229150.01447C=123/T=3059;C=11/T=1373;C=134/T=4432----hom2
51168522216TCENST00000540367ENSG000001100906852208868611878ENSP00000439084CPT1A-1CPT1A_HUMAN--3'_UTRrs750229150.01447C=123/T=3059;C=11/T=1373;C=134/T=4432----het56
61168522216TCENST00000540367ENSG000001100906852208868611878ENSP00000439084CPT1A-1CPT1A_HUMAN--3'_UTRrs750229150.01447C=123/T=3059;C=11/T=1373;C=134/T=4432----hom2
71168522445GAENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRrs1816031530.0042-lod=39:361---het4
81168522450GAENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRNA--lod=14:251---het1
91168522679CTENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRrs1133940330.0155-----het1
101168522860GCENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRrs1139100260.0274-----het2
111168523563AGENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRNA------hom1
121168523580C+AENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRNA------het1
131168523910TCENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRrs22789080.65547-----het79
141168523910TCENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRrs22789080.65547-----hom83
151168524053GAENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRrs22789070.5552-----het95
161168524053GAENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRrs22789070.5552-----hom58
171168524147CTENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRNA------het1
181168524444CTENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRNA------het3
191168524720ATENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRNA------het3
201168524964G-AENST00000265641ENSG000001100906852208868611878ENSP00000265641CPT1A-1CPT1A_HUMAN--3'_UTRNA------het1
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       Transcripts and variants in the surrounding CPT1A 11:68522088..68611878 region Gbrowse