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首頁(yè) /診斷試劑 /遺傳性基因標(biāo)準(zhǔn)品 /家族性高膽固醇血癥(FH) /SS-Integration??LDLRAP1 p.W22* Reference?Standard

SS-Integration??LDLRAP1 p.W22* Reference?Standard

CBPT0005

產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
Introduction 
Format Genomic DNA
Description LDLRAP1 (Low Density Lipoprotein Receptor Adaptor Protein 1) is a Protein Coding gene. Diseases associated with LDLRAP1 include Hypercholesterolemia, Familial, 4 and Familial Hypercholesterolemia. Among its related pathways are Plasma lipoprotein assembly, remodeling, and clearance and Vesicle-mediated transport.
   
Technical Data 
DNA Change c.65G>A
AA Change p.W22*
Mutation type Substitution - Nonsense
Zygosity Heterozygous
Allelic Frequency N/A
Transcript ENST00000374338.4
Cosmic ID N/A
Chr position(GRCh37) chr1:25870254
Buffer Tris-EDTA
   
Product Information 
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purofication Download for COA
DNA electrophoresis Download for COA
Sanger sequencing
Storage 2-8℃
Expiry 36 months from the date of manufacture
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