SS-Integration™ PCSK9 p.D374Y Reference Standard
CBPT0009
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| Introduction | |
| Format | Genomic DNA |
| Description | PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) is a Protein Coding gene. Diseases associated with PCSK9 include Hypercholesterolemia, Familial, 3 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Plasma lipoprotein assembly, remodeling, and clearance and Cholesterol metabolism. |
| Technical Data | |
| DNA Change | c.1120G>T |
| AA Change | p.D374Y |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 26.2% (DDPCR) |
| Transcript | ENST00000302118.5 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr1:55523127 |
| 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 |
