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MSeqDR Data Summary for the Term AAAS:
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
ENSG00000094914 MSeqDR Search EnsemblAAAS009ENSG00000094914ENST00000547757ENSP00000448020achalasia, adrenocortical insufficiency, alacrimia [Source:HGNC Symbol;Acc:13666]125370124053718648-1q13.135370294453715365AAASAAAS-012HGNC SymbolHGNC transcript name2049.39protein_codingprotein_codingensembl_havahavanaKNOWNPUTATIVE808613666AAAS27519


MSeqDR Master Exome Data Set M1: 245 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11253701241GAENST00000209873ENSG000000949145370124053718648ENSP00000209873AAAS-1AAAS_HUMAN--3'_UTRrs1389941440.0011A=0/G=8584;A=53/G=4341;A=53/G=12925----het2
21253701241GAENST00000552876ENSG000000949145370124053718648-AAAS-1-c.2016C>Tp.L672Lsynrs1389941440.0011A=0/G=8584;A=53/G=4341;A=53/G=12925----het2
31253701262C-TENST00000209873ENSG000000949145370124053718648ENSP00000209873AAAS-1AAAS_HUMAN--3'_UTRNA------het1
41253701262C-TENST00000394384ENSG000000949145370124053718648ENSP00000377908AAAS-1AAAS_HUMAN--3'_UTRNA------het1
51253701262C-TENST00000550286ENSG000000949145370124053718648ENSP00000446885AAAS-1---3'_UTRNA------het1
61253701262C-TENST00000552876ENSG000000949145370124053718648-AAAS-1-c.1994_1994delp.K665NAnon-synNA------het1
71253701357AGENST00000209873ENSG000000949145370124053718648ENSP00000209873AAAS-1AAAS_HUMANc.1557T>Cp.T519Tsynrs1129877080.0943G=0/A=8600;G=330/A=4076;G=330/A=12676lod=52:391---het8
81253701357AGENST00000394384ENSG000000949145370124053718648ENSP00000377908AAAS-1AAAS_HUMANc.1458T>Cp.T486Tsynrs1129877080.0943G=0/A=8600;G=330/A=4076;G=330/A=12676lod=52:391---het8
91253701357AGENST00000548931ENSG000000949145370124053718648ENSP00000457518AAAS-1-c.992T>Cp.L331Pnon-synrs1129877080.0943G=0/A=8600;G=330/A=4076;G=330/A=12676lod=52:391---het8
101253701357AGENST00000550286ENSG000000949145370124053718648ENSP00000446885AAAS-1-c.1185T>Cp.T395Tsynrs1129877080.0943G=0/A=8600;G=330/A=4076;G=330/A=12676lod=52:391---het8
111253701357AGENST00000552876ENSG000000949145370124053718648-AAAS-1-c.1900T>Cp.*634Rnon-synrs1129877080.0943G=0/A=8600;G=330/A=4076;G=330/A=12676lod=52:391---het8
121253702058CTENST00000209873ENSG000000949145370124053718648ENSP00000209873AAAS-1AAAS_HUMAN--+8bp 5'_splice_siters200834285-T=0/C=8600;T=29/C=4377;T=29/C=12977----het4
131253702058CTENST00000394384ENSG000000949145370124053718648ENSP00000377908AAAS-1AAAS_HUMAN--+8bp 5'_splice_siters200834285-T=0/C=8600;T=29/C=4377;T=29/C=12977----het4
141253702058CTENST00000548931ENSG000000949145370124053718648ENSP00000457518AAAS-1---+8bp 5'_splice_siters200834285-T=0/C=8600;T=29/C=4377;T=29/C=12977----het4
151253702058CTENST00000550033ENSG000000949145370124053718648-AAAS-1---+8bp 5'_splice_siters200834285-T=0/C=8600;T=29/C=4377;T=29/C=12977----het4
161253702058CTENST00000550286ENSG000000949145370124053718648ENSP00000446885AAAS-1---+8bp 5'_splice_siters200834285-T=0/C=8600;T=29/C=4377;T=29/C=12977----het4
171253702058CTENST00000552876ENSG000000949145370124053718648-AAAS-1---+8bp 5'_splice_siters200834285-T=0/C=8600;T=29/C=4377;T=29/C=12977----het4
181253702071AGENST00000209873ENSG000000949145370124053718648ENSP00000209873AAAS-1AAAS_HUMANc.1244T>Cp.M415Tnon-synrs200871966-G=0/A=8600;G=2/A=4404;G=2/A=13004lod=325:587DAMAGINGD-het1
191253702071AGENST00000394384ENSG000000949145370124053718648ENSP00000377908AAAS-1AAAS_HUMANc.1145T>Cp.M382Tnon-synrs200871966-G=0/A=8600;G=2/A=4404;G=2/A=13004lod=325:587DAMAGINGD-het1
201253702071AGENST00000548931ENSG000000949145370124053718648ENSP00000457518AAAS-1-c.764T>Cp.M255Tnon-synrs200871966-G=0/A=8600;G=2/A=4404;G=2/A=13004lod=325:587DAMAGINGD-het1
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       Transcripts and variants in the surrounding AAAS 12:53701240..53718648 region Gbrowse