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SMN1 p.Q284Tfs*22 Reference Standard

科研细胞

科研细胞

药靶细胞

药靶细胞

标准品

标准品

NGS靶向捕获探针

NGS靶向捕获探针
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SMN1 p.Q284Tfs*22 Reference Standard

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产品编号
CBP10561
货号:
CBP10561
品牌:
Cobioer
规格:
1ug
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产品描述
参数
产品数据库
 CBP10561
Format Genomic DNA
Description Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy caused by the degeneration of motor neurons in the anterior horn of the spinal cord. The disease is the number one fatal genetic disease in infancy, and it is estimated that there is one case in every 10,000 live births; the carrier rate of the general population is about 1/50, and the carrier rate of the domestic population is about 1/42.
   
Technical Data 
DNA Change c.849_850insA
AA Change p.Q284Tfs*22
Zygosity Heterozygous
Allelic Frequency 50%
Transcript ENST00000380707.4
Cosmic ID N/A
Chr position (GRCh37) chr5:70247783--A
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 4℃
Expiry 36 months from the date of manufacture

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