LDLR p.H583Y Reference Standard
CBPT0002
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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 | NM_000527.5:c.1747C>T |
| AA Change | p.H583Y |
| Zygosity | Heterozygous |
| Allelic Frequency | 50% |
| Chr position(GRCh37) | Chr19: 11227576C>T |
| 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 |
| DdPCR Results |  |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
