Hs03480425_cn

• Gene Symbol: ILDR1
• Assay Reference Genome Location: Chr.3:121991674 on build GRCh38
• Cytoband: 3q13.33

Target Gene Details

• Entrez Gene ID: 286676
• Gene Name: immunoglobulin like domain containing receptor 1
• Gene Aliases: DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
• Location: Chr.3:121987323-122060554 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ILDR1	NM_001199799.1			NP_001186728.1
	NM_001199800.1			NP_001186729.1
	NM_175924.3			NP_787120.1
	XM_005247389.4			XP_005247446.1
	XM_011512738.2			XP_011511040.1
	XM_011512739.2			XP_011511041.1
	AK129974.1			BAC85264.1
	AY672837.1			AAT77412.1
	AY672838.1			AAT77413.1
	AY672839.1			AAT77414.1
	BC044240.1			AAH44240.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv33139	Chr.3:121781553 - 122372984 on Build GRCh38	Loss	ILDR1 CASR CD86 IQCB1 CSTA SLC15A2 EAF2 CCDC58

More Information

Additional Information:

For this assay, SNP(s) [rs144214568] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

defense/immunity protein, immunoglobulin receptor superfamily

Gene Ontology Categories:

Process(es)

receptor-mediated endocytosis
positive regulation of peptide hormone secretion

Function(s)

high-density lipoprotein particle receptor activity