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MSeqDR Data Summary for the Term CTLA4:
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
ENSG00000163599 MSeqDR Search EnsemblCTLA4007ENSG00000163599ENST00000302823ENSP00000303939cytotoxic T-lymphocyte-associated protein 4 [Source:HGNC Symbol;Acc:2505]22047325092047386831q33.2204732509204738683CTLA4CTLA4-001HGNC SymbolHGNC transcript name542.22protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN14932505CTLA4NM_00521427508


MSeqDR Master Exome Data Set M1: 36 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
12204732688GAENST00000295854ENSG00000163599204732509204738683ENSP00000295854CTLA41-c.23G>Ap.R8Qnon-synrs138279736-A=0/G=8600;A=3/G=4403;A=3/G=13003-DAMAGINGP-het2
22204732688GAENST00000302823ENSG00000163599204732509204738683ENSP00000303939CTLA41CTLA4_HUMANc.23G>Ap.R8Qnon-synrs138279736-A=0/G=8600;A=3/G=4403;A=3/G=13003-DAMAGINGP-het2
32204732688GAENST00000472206ENSG00000163599204732509204738683ENSP00000417779CTLA41CTLA4_HUMANc.23G>Ap.R8Qnon-synrs138279736-A=0/G=8600;A=3/G=4403;A=3/G=13003-DAMAGINGP-het2
42204732688GAENST00000487393ENSG00000163599204732509204738683-CTLA41-c.23G>Ap.R8Qnon-synrs138279736-A=0/G=8600;A=3/G=4403;A=3/G=13003-DAMAGINGP-het2
52204732714AGENST00000295854ENSG00000163599204732509204738683ENSP00000295854CTLA41-c.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhet507
62204732714AGENST00000295854ENSG00000163599204732509204738683ENSP00000295854CTLA41-c.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhom177
72204732714AGENST00000302823ENSG00000163599204732509204738683ENSP00000303939CTLA41CTLA4_HUMANc.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhet507
82204732714AGENST00000302823ENSG00000163599204732509204738683ENSP00000303939CTLA41CTLA4_HUMANc.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhom177
92204732714AGENST00000472206ENSG00000163599204732509204738683ENSP00000417779CTLA41CTLA4_HUMANc.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhet507
102204732714AGENST00000472206ENSG00000163599204732509204738683ENSP00000417779CTLA41CTLA4_HUMANc.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhom177
112204732714AGENST00000487393ENSG00000163599204732509204738683-CTLA41-c.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhet507
122204732714AGENST00000487393ENSG00000163599204732509204738683-CTLA41-c.49A>Gp.T17Anon-synrs2317750.5137G=3176/A=5424;G=1629/A=2777;G=4805/A=8201-TOLERATEDB IDDM, association withhom177
132204732740GCENST00000295854ENSG00000163599204732509204738683ENSP00000295854CTLA41-c.75G>Cp.L25Lsynrs168402750.0118C=2/G=8598;C=120/G=4286;C=122/G=12884----het5
142204732740GCENST00000302823ENSG00000163599204732509204738683ENSP00000303939CTLA41CTLA4_HUMANc.75G>Cp.L25Lsynrs168402750.0118C=2/G=8598;C=120/G=4286;C=122/G=12884----het5
152204732740GCENST00000472206ENSG00000163599204732509204738683ENSP00000417779CTLA41CTLA4_HUMANc.75G>Cp.L25Lsynrs168402750.0118C=2/G=8598;C=120/G=4286;C=122/G=12884----het5
162204732740GCENST00000487393ENSG00000163599204732509204738683-CTLA41-c.75G>Cp.L25Lsynrs168402750.0118C=2/G=8598;C=120/G=4286;C=122/G=12884----het5
172204732749TCENST00000295854ENSG00000163599204732509204738683ENSP00000295854CTLA41-c.84T>Cp.L28LsynNA--lod=25:313---het1
182204732749TCENST00000302823ENSG00000163599204732509204738683ENSP00000303939CTLA41CTLA4_HUMANc.84T>Cp.L28LsynNA--lod=25:313---het1
192204732749TCENST00000472206ENSG00000163599204732509204738683ENSP00000417779CTLA41CTLA4_HUMANc.84T>Cp.L28LsynNA--lod=25:313---het1
202204732749TCENST00000487393ENSG00000163599204732509204738683-CTLA41-c.84T>Cp.L28LsynNA--lod=25:313---het1
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       Transcripts and variants in the surrounding CTLA4 2:204732509..204738683 region Gbrowse