Hs04984365_cn

• Gene Symbol: WBSCR17
• Assay Reference Genome Location: Chr.7:71152338 on build GRCh38
• Cytoband: 7q11.22

Target Gene Details

• Entrez Gene ID: 64409
• Gene Name: Williams-Beuren syndrome chromosome region 17
• Gene Aliases: GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T5L
• Location: Chr.7:71132414-71713601 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WBSCR17	NM_022479.2			NP_071924.1
	XM_011516467.2			XP_011514769.1
	XM_011516469.2			XP_011514771.1
	XM_017012521.1			XP_016868010.1
	AB078148.1			BAD93180.1
	AF410457.1			AAM62306.1
	AJ626726.1			CAF25037.1
	AK290036.1
	BC067524.1			AAH67524.1
	BC067525.1			AAH67525.1
	BC069624.1			AAH69624.1
	BC069628.1			AAH69628.1
	BC069636.1			AAH69636.1
	BC069645.1			AAH69645.1
	BC069997.1			AAH69997.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1017575	Chr.7:70687626 - 71905471 on Build GRCh38	Gain	MIR3914-2 MIR3914-1 WBSCR17 AUTS2 CALN1
nsv519090	Chr.7:70620948 - 71606911 on Build GRCh38	Gain	MIR3914-2 MIR3914-1 WBSCR17 AUTS2
nsv1034662	Chr.7:70810726 - 71257967 on Build GRCh38	Gain	WBSCR17

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein glycosylation

Function(s)

polypeptide N-acetylgalactosaminyltransferase activity
carbohydrate binding
metal ion binding