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MSeqDR Data Summary for the Term ITGAM:
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
ENSG00000169896 MSeqDR Search EnsemblITGAM001ENSG00000169896ENST00000287497ENSP00000287497integrin, alpha M (complement component 3 receptor 3 subunit) [Source:HGNC Symbol;Acc:6149]1631271311313442131p11.23127131131343089ITGAMITGAM-002HGNC SymbolHGNC transcript name843.36protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN36846149ITGAM27514


MSeqDR Master Exome Data Set M1: 164 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11631271418ACENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMAN--+5bp 5'_splice_siteNA------het5
21631271418ACENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMAN--+5bp 5'_splice_siteNA------het5
31631273129TCENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMAN--+11bp 5'_splice_siters37643270.67495C=5882/T=2318;C=2883/T=905;C=8765/T=3223----het347
41631273129TCENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMAN--+11bp 5'_splice_siters37643270.67495C=5882/T=2318;C=2883/T=905;C=8765/T=3223----hom549
51631273129TCENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMAN--+11bp 5'_splice_siters37643270.67495C=5882/T=2318;C=2883/T=905;C=8765/T=3223----het347
61631273129TCENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMAN--+11bp 5'_splice_siters37643270.67495C=5882/T=2318;C=2883/T=905;C=8765/T=3223----hom549
71631276717GAENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMANc.136G>Ap.V46Mnon-synNA-A=1/G=8387;A=0/G=4014;A=1/G=12401lod=60:407DAMAGING--het2
81631276717GAENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMANc.136G>Ap.V46Mnon-synNA-A=1/G=8387;A=0/G=4014;A=1/G=12401lod=60:407DAMAGING--het2
91631276811GAENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMANc.230G>Ap.R77Hnon-synrs11436790.1174A=958/G=7490;A=375/G=3739;A=1333/G=11229-TOLERATED- Systemic lupus erythematosus, association withhom21
101631276811GAENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMANc.230G>Ap.R77Hnon-synrs11436790.1174A=958/G=7490;A=375/G=3739;A=1333/G=11229-TOLERATED- Systemic lupus erythematosus, association withhet176
111631276811GAENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMANc.230G>Ap.R77Hnon-synrs11436790.1174A=958/G=7490;A=375/G=3739;A=1333/G=11229-TOLERATED- Systemic lupus erythematosus, association withhom21
121631276811GAENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMANc.230G>Ap.R77Hnon-synrs11436790.1174A=958/G=7490;A=375/G=3739;A=1333/G=11229-TOLERATED- Systemic lupus erythematosus, association withhet176
131631277170CTENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMANc.277C>Tp.L93LsynNA--lod=74:429---het2
141631277170CTENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMANc.277C>Tp.L93LsynNA--lod=74:429---het2
151631282366CGENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMANc.519C>Gp.V173Vsynrs201527382------het3
161631282366CGENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMANc.519C>Gp.V173Vsynrs201527382------het3
171631283164GAENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMAN---4bp 3'_splice_siters353144900.2053A=1032/G=7206;A=808/G=3014;A=1840/G=10220lod=81:439---het271
181631283164GAENST00000287497ENSG000001698963127131131344213ENSP00000287497ITGAM1ITAM_HUMAN---4bp 3'_splice_siters353144900.2053A=1032/G=7206;A=808/G=3014;A=1840/G=10220lod=81:439---hom33
191631283164GAENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMAN---4bp 3'_splice_siters353144900.2053A=1032/G=7206;A=808/G=3014;A=1840/G=10220lod=81:439---het271
201631283164GAENST00000544665ENSG000001698963127131131344213ENSP00000441691ITGAM1ITAM_HUMAN---4bp 3'_splice_siters353144900.2053A=1032/G=7206;A=808/G=3014;A=1840/G=10220lod=81:439---hom33
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       Transcripts and variants in the surrounding ITGAM 16:31271311..31344213 region Gbrowse