Hs01024638_cn

• Gene Symbol: LDLR
• Assay Reference Genome Location: Chr.19:11131446 on build GRCh38
• Cytoband: 19p13.2

Target Gene Details

• Entrez Gene ID: 3949
• Gene Name: low density lipoprotein receptor
• Gene Aliases: FH, FHC, LDLCQ2
• Location: Chr.19:11089362-11133830 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LDLR	NM_000527.4	18	2900	NP_000518.1
	NM_001195798.1	18	2894	NP_001182727.1
	NM_001195799.1	17	2777	NP_001182728.1
	NM_001195800.1	16	2396	NP_001182729.1
	NM_001195803.1	16	2366	NP_001182732.1
	XM_011528010.1	17	2785	XP_011526312.1
	AB209409.1	18	2778	BAD92646.1
	AK295612.1	17	2436
	AK296312.1	16	2265
	AK299038.1
	AK300313.1	17	2676
	BC014514.1	18	2783	AAH14514.1
	BX648281.1	18	2968
	DA008286.1
	S70123.1	3	464	AAB30338.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833751	Chr.19:11006139 - 11164225 on Build GRCh38	Loss	SMARCA4 MIR6886 SPC24 LDLR

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Process(es)

lipid metabolic process
endocytosis
receptor-mediated endocytosis
cholesterol metabolic process
positive regulation of triglyceride biosynthetic process
regulation of phosphatidylcholine catabolic process
phospholipid transport
intestinal cholesterol absorption
cholesterol transport
low-density lipoprotein particle clearance
lipoprotein catabolic process
cholesterol homeostasis
viral entry into host cell
cholesterol import
regulation of cholesterol homeostasis

Function(s)

virus receptor activity
glycoprotein binding
protease binding
receptor activity
low-density lipoprotein receptor activity
calcium ion binding
protein binding
low-density lipoprotein particle binding
very-low-density lipoprotein particle receptor activity
clathrin heavy chain binding
identical protein binding