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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.
General information
| Cat.No. | Name | Format | Unit Size | Intended Use | Storage | Expiry |
| CBPT0001 | LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
| CBPT0002 | LDLR p.H583Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
| CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
| CBPT0008 | SS-Integration™ LDLR p.H583Y 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) |
| CBPT0001 | LDLR p.A627T Reference Standard | NM_001042351.3:c.871G>A | p.Val291Met | N/A | Heterozygous | 50% | N/A | ChrX:153761337G>A |
| CBPT0002 | LDLR p.H583Y Reference Standard | NM_000527.5:c.1747C>T | p.H583Y | N/A | Heterozygous | 50% | N/A | Chr19: 11227576C>T |
| CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | c.1879G>A | p.A627T | Substitution - Missense | Heterozygous | 27.5% (DDPCR) | ENST00000558518.1 | Chr19:11230801 |
| CBPT0008 | SS-Integration™ LDLR p.H583Y Reference Standard | c.1747C>T | p.H583Y | Substitution - Missense | Heterozygous | 25.4%(DDPCR) | ENST00000558518.1 | Chr19:11227576 |
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.
General information
| Cat.No. | Name | Format | Unit Size | Intended Use | Storage | Expiry |
| CBPT0001 | LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
| CBPT0002 | LDLR p.H583Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
| CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
| CBPT0008 | SS-Integration™ LDLR p.H583Y 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) |
| CBPT0001 | LDLR p.A627T Reference Standard | NM_001042351.3:c.871G>A | p.Val291Met | N/A | Heterozygous | 50% | N/A | ChrX:153761337G>A |
| CBPT0002 | LDLR p.H583Y Reference Standard | NM_000527.5:c.1747C>T | p.H583Y | N/A | Heterozygous | 50% | N/A | Chr19: 11227576C>T |
| CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | c.1879G>A | p.A627T | Substitution - Missense | Heterozygous | 27.5% (DDPCR) | ENST00000558518.1 | Chr19:11230801 |
| CBPT0008 | SS-Integration™ LDLR p.H583Y Reference Standard | c.1747C>T | p.H583Y | Substitution - Missense | Heterozygous | 25.4%(DDPCR) | ENST00000558518.1 | Chr19:11227576 |
General information
Cat.No. | Name | Format | Unit Size | Intended Use | Storage | Expiry |
CBPT0001 | LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0002 | LDLR p.H583Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0008 | SS-Integration™ LDLR p.H583Y 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 |
CBPT0001 | LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0002 | LDLR p.H583Y Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | Genomic DNA | 1ug | Research Use Only | 2-8°C | 36 months |
CBPT0008 | SS-Integration™ LDLR p.H583Y 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) |
CBPT0001 | LDLR p.A627T Reference Standard | NM_001042351.3:c.871G>A | p.Val291Met | N/A | Heterozygous | 50% | N/A | ChrX:153761337G>A |
CBPT0002 | LDLR p.H583Y Reference Standard | NM_000527.5:c.1747C>T | p.H583Y | N/A | Heterozygous | 50% | N/A | Chr19: 11227576C>T |
CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | c.1879G>A | p.A627T | Substitution - Missense | Heterozygous | 27.5% (DDPCR) | ENST00000558518.1 | Chr19:11230801 |
CBPT0008 | SS-Integration™ LDLR p.H583Y Reference Standard | c.1747C>T | p.H583Y | Substitution - Missense | Heterozygous | 25.4%(DDPCR) | ENST00000558518.1 | Chr19:11227576 |
Technical Data
Cat.No. | Name | DNA Change | AA Change | Mutation type | Zygosity | Allelic Frequency | Transcript | Chr position (GRCh37) |
CBPT0001 | LDLR p.A627T Reference Standard | NM_001042351.3:c.871G>A | p.Val291Met | N/A | Heterozygous | 50% | N/A | ChrX:153761337G>A |
CBPT0002 | LDLR p.H583Y Reference Standard | NM_000527.5:c.1747C>T | p.H583Y | N/A | Heterozygous | 50% | N/A | Chr19: 11227576C>T |
CBPT0006 | SS-Integration™ LDLR p.A627T Reference Standard | c.1879G>A | p.A627T | Substitution - Missense | Heterozygous | 27.5% (DDPCR) | ENST00000558518.1 | Chr19:11230801 |
CBPT0008 | SS-Integration™ LDLR p.H583Y Reference Standard | c.1747C>T | p.H583Y | Substitution - Missense | Heterozygous | 25.4%(DDPCR) | ENST00000558518.1 | Chr19:11227576 |
