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CBPT0009/3
CBPT0009/3
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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.
General information
Cat.No. | Name | Format | Unit Size | Intended Use | Storage | Expiry |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0003 | PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
Technical Data
Cat.No. | Name | DNA Change | AA Change | Mutation type | Zygosity | Allelic Frequency | Transcript | Chr position (GRCh37) |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | c.1120G>T | p.D374Y | Substitution - Missense | Heterozygous | 26.2% (DDPCR) | ENST00000302118.5 | Chr1:55523127 |
CBPT0003 | PCSK9 p.D374Y Reference Standard | NM_174936.4:c.1120G>T | p.D374Y | N/A | Heterozygous | 50% | N/A | 55523127G>T |
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.
General information
Cat.No. | Name | Format | Unit Size | Intended Use | Storage | Expiry |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0003 | PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
Technical Data
Cat.No. | Name | DNA Change | AA Change | Mutation type | Zygosity | Allelic Frequency | Transcript | Chr position (GRCh37) |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | c.1120G>T | p.D374Y | Substitution - Missense | Heterozygous | 26.2% (DDPCR) | ENST00000302118.5 | Chr1:55523127 |
CBPT0003 | PCSK9 p.D374Y Reference Standard | NM_174936.4:c.1120G>T | p.D374Y | N/A | Heterozygous | 50% | N/A | 55523127G>T |
General information
Cat.No. | Name | Format | Unit Size | Intended Use | Storage | Expiry |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0003 | PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
General information
Cat.No. | Name | Format | Unit Size | Intended Use | Storage | Expiry |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0003 | PCSK9 p.D374Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
Technical Data
Cat.No. | Name | DNA Change | AA Change | Mutation type | Zygosity | Allelic Frequency | Transcript | Chr position (GRCh37) |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | c.1120G>T | p.D374Y | Substitution - Missense | Heterozygous | 26.2% (DDPCR) | ENST00000302118.5 | Chr1:55523127 |
CBPT0003 | PCSK9 p.D374Y Reference Standard | NM_174936.4:c.1120G>T | p.D374Y | N/A | Heterozygous | 50% | N/A | 55523127G>T |
Technical Data
Cat.No. | Name | DNA Change | AA Change | Mutation type | Zygosity | Allelic Frequency | Transcript | Chr position (GRCh37) |
CBPT0009 | SS-Integration™ PCSK9 p.D374Y Reference Standard | c.1120G>T | p.D374Y | Substitution - Missense | Heterozygous | 26.2% (DDPCR) | ENST00000302118.5 | Chr1:55523127 |
CBPT0003 | PCSK9 p.D374Y Reference Standard | NM_174936.4:c.1120G>T | p.D374Y | N/A | Heterozygous | 50% | N/A | 55523127G>T |
