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基因检测标准品 > Panel > CBP90019Panel-Ref® BRCA1/2 Somatic Mutation Cocktail

Panel-Ref® BRCA1/2 Somatic Mutation Cocktail
名称 Panel-Ref® BRCA1/2 Somatic Mutation Cocktail
型号 CBP90019
报价
特点 Panel-Ref® BRCA1/2 Somatic Mutation Cocktail I
  • 详细内容
Panel-Ref® BRCA1/2 Somatic Mutation Cocktail I
Cat No.CBP90019
Description主要包含BRCA1和BRCA2的SNV和indel,用于相关的试剂盒和Panel检测服务的质控。








GeneClinical significanceDNA changeAA changeFunctional classVariant annotationCosmic IDChr position (GRCh37)
BRCA1Benignc.4837A>Gp.S1634Gmissense_variant5.00%COSM3755559chr17:41223094
BRCA1Benignc.3548A>Gp.K1183Rmissense_variant5.00%COSM148277chr17:41244000
BRCA1Benignc.2612C>Tp.P871Qmissense_variant45.00%COSM148278chr17:41244936
BRCA1Benignc.2458A>GK820Emissense_variant5.00%COSM7353052chr17:41245090
BRCA1Benignc.2082C>Tp.S694Ssynonymous_variant5.00%N/Achr17:41245466
BRCA1Uncertain significancec.1303G>Tp.D435Ymissense_variant5.00%COSM3190122chr17:41246245
BRCA2Benignc.865A>Cp.N289Dmissense_variant5.00%COSM3999066chr13:32906480
BRCA2Benignc.2229T>Cp.H743Hsynonymous_variant5.00%COSM5019762chr13:32910721
BRCA2Benignc.2971A>Gp.N991Dmissense_variant5.00%COSM4986759chr13:32911463
BRCA2Benignc.3516G>Ap.S1172Ssynonymous_variant5.00%COSM9269246chr13:32912008
BRCA2Benignc.3807T>Cp.V1269Vsynonymous_variant5.00%COSM6849605chr13:32912299
BRCA2Benignc.4563A>Gp.L1521Lsynonymous_variant100.00%COSM9180822chr13:32913055
BRCA2Pathogenicc.5345delAp.N1784fsframeshift_variant10.00%COSM18607chr13:32913843
BRCA2Benignc.6513G>Cp.V2171Vsynonymous_variant100.00%COSM4147689chr13:32915005
BRCA2Benignc.7397T>Cp.V2466Amissense_variant100.00%COSM7335572chr13:32929387
BRCA1Pathogenicc.4327C>Tp.R1443*stop_gained1.00%COSM979730chr17:41234451
BRCA2Benignc.3396A>Gp.K1132Ksynonymous_variant45.00%COSM4415775chr13:32911888
BRCA2Benignc.4258G>Tp.D1420Ymissense_variant5.00%COSM3736087chr13:32912750
BRCA2Pathogenicc.5067delAp.K1691fsframeshift_variant5.00%N/Achr13:32913559
BRCA2Benignc.1365A>Tp.S455Ssynonymous_variant5.00%N/Achr13:32906980
BRCA2Benignc.7242A>Tp.S2414Ssynonymous_variant37.00%N/Achr13:32929232








Product Information 
Intended UseResearch Use Only
Unit Size1ug/vial * 1 vial
ConcentrationDownload for COA
PurityDownload for COA
DNA electrophoresisDownload for COA
Storage4°C
Expiry36 months from the date of manufacture


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