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MSeqDR Data Summary for the Term ADH1C:
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
ENSG00000248144 MSeqDR Search EnsemblADH1C013ENSG00000248144ENST00000515683ENSP00000426083alcohol dehydrogenase 1C (class I), gamma polypeptide [Source:HGNC Symbol;Acc:251]4100257649100274184-1q23100257649100274184ADH1CADH1C-001HGNC SymbolHGNC transcript name435.59polymorphic_pseudogenepolymorphic_pseudogenehavanahavanaKNOWNKNOWN126251ADH1CNM_00066927524


MSeqDR Master Exome Data Set M1: 103 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
14100257649TCENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1---3'_UTRNA------het1
24100257901GAENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1---3'_UTRrs79502992-A=6/G=8594;A=4/G=4402;A=10/G=12996----het3
34100257907TCENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1---3'_UTRrs22987530.11223C=796/T=7804;C=133/T=4273;C=929/T=12077----het176
44100257907TCENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1---3'_UTRrs22987530.11223C=796/T=7804;C=133/T=4273;C=929/T=12077----hom11
54100257951AGENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1----18bp 3'_splice_siteNA------het3
64100260783GTENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.1054C>Ap.P352Tnon-synrs357195130.01158T=22/G=8570;T=10/G=4334;T=32/G=12904lod=146:502---het8
74100260789TCENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.1048A>Gp.I350Vnon-synrs6980.36233C=3319/T=5273;C=659/T=3685;C=3978/T=8958lod=146:502-- Alcoholism, increased risk, association with ?het519
84100260789TCENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.1048A>Gp.I350Vnon-synrs6980.36233C=3319/T=5273;C=659/T=3685;C=3978/T=8958lod=146:502-- Alcoholism, increased risk, association with ?hom182
94100263940CAENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1---+12bp 5'_splice_siters559827260.00458A=51/C=8549;A=5/C=4401;A=56/C=12950----het6
104100263942CTENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1---+10bp 5'_splice_siters17899120.38078T=3299/C=5301;T=659/C=3747;T=3958/C=9048----het317
114100263942CTENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1---+10bp 5'_splice_siters17899120.38078T=3299/C=5301;T=659/C=3747;T=3958/C=9048----hom99
124100263965CTENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.815G>Ap.R272Qnon-synrs16934820.37103T=3304/C=5296;T=660/C=3746;T=3964/C=9042lod=54:395-- Alcohol dehydrogenase gamma varianthom101
134100263965CTENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.815G>Ap.R272Qnon-synrs16934820.37103T=3304/C=5296;T=660/C=3746;T=3964/C=9042lod=54:395-- Alcohol dehydrogenase gamma varianthet290
144100264094TAENST00000510055ENSG00000248144100257649100274184-ADH1C-1-c.861A>Tp.Q287Hnon-synNA--lod=266:566---het1
154100264094TAENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.686A>Tp.K229Inon-synNA--lod=266:566---het1
164100264102GAENST00000510055ENSG00000248144100257649100274184-ADH1C-1-c.853C>Tp.Q285*non-synrs64134440.01913A=127/G=8473;A=9/G=4397;A=136/G=12870lod=266:566---het30
174100264102GAENST00000510055ENSG00000248144100257649100274184-ADH1C-1-c.853C>Tp.Q285*non-synrs64134440.01913A=127/G=8473;A=9/G=4397;A=136/G=12870lod=266:566---hom1
184100264102GAENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.678C>Tp.N226Nsynrs64134440.01913A=127/G=8473;A=9/G=4397;A=136/G=12870lod=266:566---het30
194100264102GAENST00000515683ENSG00000248144100257649100274184ENSP00000426083ADH1C-1-c.678C>Tp.N226Nsynrs64134440.01913A=127/G=8473;A=9/G=4397;A=136/G=12870lod=266:566---hom1
204100264168GAENST00000510055ENSG00000248144100257649100274184-ADH1C-1-c.787C>Tp.R263Wnon-synrs78113489-A=5/G=8595;A=0/G=4406;A=5/G=13001lod=217:544---het2
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       Transcripts and variants in the surrounding ADH1C 4:100257649..100274184 region Gbrowse