SS-Integration™ LDLR p.H583Y Reference Standard
CBPT0008
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| Introduction | |
| Format | Genomic DNA |
| Description | LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include Hypercholesterolemia, Familial, 1 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Familial hyperlipidemia type 1 and Statin inhibition of cholesterol production. |
| Technical Data | |
| DNA Change | c.1747C>T |
| AA Change | p.H583Y |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 25.4% (DDPCR) |
| Transcript | ENST00000558518.1 |
| Cosmic ID | COSM5581534 |
| Chr position(GRCh37) | chr19:11227576 |
| 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 | Download for COA |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
