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MSeqDR Data Summary for the Term MT-ND1:
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
ENSG00000198888 MSeqDR Search EnsemblMT-ND119123ENSG00000198888ENST00000361390ENSP00000354687mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]M33074262133074262MT-ND1MT-ND1-201HGNC SymbolHGNC transcript name147.7protein_codingprotein_codinginsdcinsdcKNOWNKNOWN45357455MT-ND1100965601

MSeqDR Master Exome Data Set M1: 86 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1M3308TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.2T>Cp.M1Tnon-synrs28358582--lod=13:243--HGMDhom2
2M3316GAENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.10G>Ap.A4Tnon-synrs2853516------hom1
3M3338TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.32T>Cp.V11Anon-synNA------hom2
4M3348AGENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.42A>Gp.L14Lsynrs112459719------hom3
5M3350TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.44T>Cp.I15Tnon-synNA------hom2
6M3355AGENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.49A>Gp.M17Vnon-synNA--lod=35:349---hom4
7M3357GAENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.51G>Ap.M17MsynNA--lod=35:349---hom10
8M3360AGENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.54A>Gp.A18AsynNA--lod=35:349---hom3
9M3394TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.88T>Cp.T30Hnon-synrs41460449--lod=42:369--HGMDhom4
10M3396TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.90T>Cp.T30TsynNA--lod=42:369---hom4
11M3397AGENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.91A>Gp.M31Vnon-synNA--lod=42:369--HGMDhom1
12M3398TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.92T>Cp.M31Tnon-synNA--lod=42:369---hom7
13M3398TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.92T>Cp.M31Tnon-synNA--lod=42:369---het1
14M3421GAENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.115G>Ap.V39Inon-synrs113710445------hom1
15M3438GAENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.132G>Ap.G44GsynNA--lod=22:300---hom7
16M3447AGENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.141A>Gp.Q47QsynNA--lod=42:369---hom4
17M3450CTENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.144C>Tp.P48Psynrs28358583--lod=42:369---hom2
18M3456TCENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.150T>Cp.A50AsynNA--lod=23:304---hom1
19M3480AGENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.174A>Gp.K58Ksynrs28358584--lod=53:393---hom65
20M3505AGENST00000361390ENSG0000019888833074262ENSP00000354687MT-ND11NU1M_HUMANc.199A>Gp.T67Anon-synrs28358585------hom16
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       Transcripts and variants in the surrounding MT-ND1 M:3307..4262 region Gbrowse