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首頁(yè) /診斷試劑 /遺傳性基因標準品 /遺傳性耳聾 /AI-Edigene? SLC26A4 p.H723R Reference Standard Plus

AI-Edigene? SLC26A4 p.H723R Reference Standard Plus

CBPD0026

產(chǎn)品描述
產(chǎn)品數據庫
Introduction
Format Genomic DNA
Description SLC26A4 (Solute Carrier Family 26 Member 4) is a Protein Coding gene. Diseases associated with SLC26A4 include Pendred Syndrome and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters.
   
Technical Data 
DNA Change c.2168A>G
AA Change p.H723R
Zygosity Homozygous
Allelic Frequency 100%
Chr position (GRCh38) chr7: 107710132
Transcript NM_000441.2
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°C
Expiry 36 months from the date of manufacture

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