MSeqDR Central Portal

MSeqDR Data Summary for the Term OPN1SW:
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
ENSG00000128617 MSeqDR Search EnsemblOPN1SW003ENSG00000128617ENST00000249389ENSP00000249389opsin 1 (cone pigments), short-wave-sensitive [Source:HGNC Symbol;Acc:1012]7128412545128415844-1q32.1128412545128415844OPN1SWOPN1SW-001HGNC SymbolHGNC transcript name148.61protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN6111012OPN1SWNM_00170827506


MSeqDR Master Exome Data Set M1: 14 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
17128412618CAENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.1023G>Tp.S341Ssynrs140568559-A=15/C=8585;A=0/C=4406;A=15/C=12991lod=70:423---het3
27128412698TCENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.943A>Gp.M315Vnon-synNA--lod=153:507TOLERATEDP-het3
37128413777CAENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.853G>Tp.V285Fnon-synrs79158266--lod=174:521DAMAGINGD-het13
47128413913CTENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.717G>Ap.T239TsynNA-T=0/C=8600;T=2/C=4404;T=2/C=13004----hom1
57128414563CTENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.676G>Ap.A226Tnon-synNA--lod=60:407TOLERATEDB-het1
67128414573CTENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.666G>Ap.Q222Qsynrs201738858-T=0/C=8600;T=2/C=4404;T=2/C=13004lod=47:381---het1
77128415040CTENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.521G>Ap.R174Qnon-synrs141288412-T=2/C=8598;T=0/C=4406;T=2/C=13004lod=167:516DAMAGINGD-het2
87128415071CTENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.490G>Ap.V164Inon-synrs1438179310.0151T=16/C=8584;T=25/C=4381;T=41/C=12965-DAMAGINGD-het8
97128415195TGENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.366A>Cp.G122Gsynrs17999220.33177G=3471/T=5129;G=651/T=3755;G=4122/T=8884lod=207:539---het408
107128415195TGENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.366A>Cp.G122Gsynrs17999220.33177G=3471/T=5129;G=651/T=3755;G=4122/T=8884lod=207:539---hom115
117128415623GTENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.222C>Ap.V74Vsynrs358933930.01737T=151/G=8449;T=22/G=4384;T=173/G=12833lod=107:469---het14
127128415623GTENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.222C>Ap.V74Vsynrs358933930.01737T=151/G=8449;T=22/G=4384;T=173/G=12833lod=107:469---hom1
137128415814GAENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.31C>Tp.L11Lsynrs559749220.00646A=97/G=8503;A=9/G=4397;A=106/G=12900lod=81:439---het21
147128415831GAENST00000249389ENSG00000128617128412545128415844ENSP00000249389OPN1SW-1OPSB_HUMANc.14C>Tp.S5Lnon-synrs1853731900.0028A=2/G=8598;A=1/G=4405;A=3/G=13003lod=25:313TOLERATEDB-het4
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       Transcripts and variants in the surrounding OPN1SW 7:128412545..128415844 region Gbrowse