Hs04218422_cn

• Gene Symbol: ERLEC1
• Assay Reference Genome Location: Chr.2:53792661 on build GRCh38
• Cytoband: 2p16.2

Target Gene Details

• Entrez Gene ID: 27248
• Gene Name: endoplasmic reticulum lectin 1
• Gene Aliases: C2orf30, CIM, CL24936, CL25084, HEL117, XTP3-B, XTP3TPB
• Location: Chr.2:53786931-53826928 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERLEC1	NM_001127397.2			NP_001120869.1
	NM_001127398.2			NP_001120870.1
	NM_015701.4			NP_056516.2
	XM_011532766.1			XP_011531068.1
	AK001913.1			BAA91974.1
	AK315477.1
	AY358717.1			AAQ89079.1
	AY453410.1			AAR26725.1
	BC013129.1			AAH13129.1
	BC022228.1			AAH22228.1
	EU794676.1

Target Gene Details

• Entrez Gene ID: 100302652
• Gene Name: GPR75-ASB3 readthrough
• Gene Aliases: -
• Location: Chr.2:53670293-53860033 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPR75-ASB3	NM_001164165.1			NP_001157637.1
	DC314536.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834058	Chr.2:53673537 - 53844874 on Build GRCh38	Gain+Loss	ASB3 ERLEC1 CHAC2 GPR75-ASB3
nsv1009829	Chr.2:53753425 - 53824790 on Build GRCh38	Loss	ASB3 ERLEC1 CHAC2 GPR75-ASB3

More Information

Additional Information:

For this assay, SNP(s) [rs142458694] 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

Gene Ontology Categories:

Process(es)

ERAD pathway
negative regulation of retrograde protein transport, ER to cytosol

Function(s)

glycoprotein binding
protein binding
unfolded protein binding