Hs01135846_cn

• Gene Symbol: ASGR2
• Assay Reference Genome Location: Chr.17:7114775 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 433
• Gene Name: asialoglycoprotein receptor 2
• Gene Aliases: ASGP-R2, ASGPR2, CLEC4H2, HBXBP, HL-2
• Location: Chr.17:7101322-7115522 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASGR2	NM_001181.4			NP_001172.1
	NM_001201352.1			NP_001188281.1
	NM_080912.3			NP_550434.1
	NM_080913.3			NP_550435.1
	XM_005256648.2			XP_005256705.1
	XM_006721524.2			XP_006721587.2
	XM_006721526.1			XP_006721589.1
	XM_011523862.2			XP_011522164.2
	XM_011523863.2			XP_011522165.1
	XM_011523865.1			XP_011522167.1
	XM_011523866.1			XP_011522168.1
	XM_017024651.1			XP_016880140.1
	XM_017024652.1			XP_016880141.1
	XM_017024653.1			XP_016880142.1
	AK303787.1
	AK310123.1
	BC017251.2			AAH17251.1
	BM561839.1
	BX483468.1
	DC315727.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	EIF4A1 SLC2A4 ASGR2 SOX15 NLGN2 CTDNEP1 ALOX12-AS1 TNFSF13 TMEM102 GABARAP ALOX12P2 ELP5 C17orf74 TEKT1 TNK1 SHBG SNORA48 TNFSF12 ACAP1 MIR195 YBX2 CHRNB1 MIR497 C17orf49 SENP3 FBXO39 SNORD10 ZBTB4 DLG4 BCL6B MIR497HG ASGR1 EIF5A MIR324 TMEM95 MPDU1 TMEM256 DVL2 ACADVL LOC100996842 KCTD11 CLDN7 CLEC10A POLR2A GPS2 FGF11 LOC107983988 SLC35G6 SAT2 SLC16A13 NEURL4 TNFSF12-TNFSF13 ATP1B2 PHF23 PLSCR3 SNORA67 CD68 SLC16A11 FXR2 SENP3-EIF4A1 ALOX12 TMEM256-PLSCR3 RNASEK SPEM1 RNASEK-C17orf49
esv3639860	Chr.17:7112919 - 7124549 on Build GRCh38	Gain	ASGR2
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	NEURL4 SLC2A4 ASGR2 DLG4 PHF23 ASGR1 EIF5A MIR324 CTDNEP1 GABARAP DVL2 ACADVL YBX2 CLDN7 ELP5 GPS2
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	EIF4A1 SLC2A4 ASGR2 SOX15 NLGN2 CTDNEP1 ALOX12-AS1 TNFSF13 TMEM102 GABARAP ELP5 C17orf74 TNK1 SHBG SNORA48 TNFSF12 ACAP1 MIR195 YBX2 CHRNB1 MIR497 C17orf49 SENP3 SNORD10 ZBTB4 DLG4 BCL6B MIR497HG ASGR1 EIF5A MIR324 TMEM95 MPDU1 TMEM256 DVL2 ACADVL LOC100996842 KCTD11 CLDN7 CLEC10A POLR2A GPS2 FGF11 LOC107983988 SLC35G6 SAT2 SLC16A13 NEURL4 TP53 TNFSF12-TNFSF13 ATP1B2 PHF23 PLSCR3 SNORA67 CD68 SLC16A11 FXR2 SENP3-EIF4A1 ALOX12 TMEM256-PLSCR3 RNASEK SPEM1 WRAP53 RNASEK-C17orf49

More Information

Additional Information:

For this assay, SNP(s) [rs78971871] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

receptor-mediated endocytosis
cell surface receptor signaling pathway
glycoprotein metabolic process
bone mineralization
regulation of protein stability
lipid homeostasis

Function(s)

asialoglycoprotein receptor activity
protein binding
carbohydrate binding