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Panel-Ref® BRCA1/2 Somatic Mutation Cocktail I

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Panel-Ref® BRCA1/2 Somatic Mutation Cocktail I

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产品编号
CBP90019
货号:
CBP90019
品牌:
Cobioer
规格:
1ug/vial * 1 vial
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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。
               
Gene Clinical significance DNA change AA change Functional class Variant annotation Cosmic ID Chr position (GRCh37)
BRCA1 Benign​ c.4837A>G p.S1634G missense_variant 5.00% COSM3755559 chr17:41223094
BRCA1 Benign​ c.3548A>G p.K1183R missense_variant 5.00% COSM148277 chr17:41244000
BRCA1 Benign​ c.2612C>T p.P871Q missense_variant 45.00% COSM148278 chr17:41244936
BRCA1 Benign​ c.2458A>G K820E missense_variant 5.00% COSM7353052 chr17:41245090
BRCA1 Benign c.2082C>T p.S694S synonymous_variant 5.00% N/A chr17:41245466
BRCA1 Uncertain significance​ c.1303G>T p.D435Y missense_variant 5.00% COSM3190122 chr17:41246245
BRCA2 Benign​ c.865A>C p.N289D missense_variant 5.00% COSM3999066 chr13:32906480
BRCA2 Benign​ c.2229T>C p.H743H synonymous_variant 5.00% COSM5019762 chr13:32910721
BRCA2 Benign​ c.2971A>G p.N991D missense_variant 5.00% COSM4986759 chr13:32911463
BRCA2 Benign​ c.3516G>A p.S1172S synonymous_variant 5.00% COSM9269246 chr13:32912008
BRCA2 Benign​ c.3807T>C p.V1269V synonymous_variant 5.00% COSM6849605 chr13:32912299
BRCA2 Benign​ c.4563A>G p.L1521L synonymous_variant 100.00% COSM9180822 chr13:32913055
BRCA2 Pathogenic c.5345delA p.N1784fs frameshift_variant 10.00% COSM18607 chr13:32913843
BRCA2 Benign​ c.6513G>C p.V2171V synonymous_variant 100.00% COSM4147689 chr13:32915005
BRCA2 Benign​ c.7397T>C p.V2466A missense_variant 100.00% COSM7335572 chr13:32929387
BRCA1 Pathogenic c.4327C>T p.R1443* stop_gained 1.00% COSM979730 chr17:41234451
BRCA2 Benign​ c.3396A>G p.K1132K synonymous_variant 45.00% COSM4415775 chr13:32911888
BRCA2 Benign​ c.4258G>T p.D1420Y missense_variant 5.00% COSM3736087 chr13:32912750
BRCA2 Pathogenic​ c.5067delA p.K1691fs frameshift_variant 5.00% N/A chr13:32913559
BRCA2 Benign​ c.1365A>T p.S455S synonymous_variant 5.00% N/A chr13:32906980
BRCA2 Benign​ c.7242A>T p.S2414S synonymous_variant 37.00% N/A chr13:32929232
               
Product Information 
Intended Use Research Use Only
Unit Size 1ug/vial * 1 vial
Concentration Download for COA
Purity Download for COA
DNA electrophoresis Download for COA
Storage -20°C
Expiry 36 months from the date of manufacture
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