Hs06648662_cn

• Gene Symbol: GLB1
• Assay Reference Genome Location: Chr.3:33006837 on build GRCh38
• Cytoband: 3p22.3

Target Gene Details

• Entrez Gene ID: 2720
• Gene Name: galactosidase beta 1
• Gene Aliases: EBP, ELNR1, MPS4B
• Location: Chr.3:32996608-33097230 on Build GRCh38
• Assay Gene Location: Within Intron 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLB1	NM_000404.3			NP_000395.2
	NM_001079811.2			NP_001073279.1
	NM_001135602.2			NP_001129074.1
	NM_001317040.1			NP_001303969.1
	AK130133.1
	AK222763.1			BAD96483.1
	AK223091.1			BAD96811.1
	AK298985.1
	AK300021.1
	AK300753.1
	AK312988.1
	BC007493.2			AAH07493.1
	BT007147.1			AAP35811.1
	M22590.1			AAA51822.1
	M27507.1			AAA51819.1
	M27508.1			AAA35599.1
	M34423.1			AAA51823.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv998302	Chr.3:32595752 - 33112754 on Build GRCh38	Gain	TMPPE CNOT10 TRIM71 CCR4 LOC105377022 GLB1 LOC105377021
nsv1003285	Chr.3:31386933 - 33172886 on Build GRCh38	Gain	STT3B CMTM8 SUSD5 CNOT10 TRIM71 LOC105377022 GLB1 MIR548AY LOC105377021 CMTM7 OSBPL10-AS1 CMTM6 TMPPE CRTAP DYNC1LI1 CCR4 ZNF860 GPD1L OSBPL10
nsv3753	Chr.3:32966390 - 33027225 on Build GRCh38	Insertion	LOC105377022 GLB1

More Information

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

Panther Classification:

Molecular Function -

galactosidase

Gene Ontology Categories:

Process(es)

glycosaminoglycan catabolic process
glycosphingolipid metabolic process
galactose catabolic process
keratan sulfate catabolic process
cellular carbohydrate metabolic process

Function(s)

exo-alpha-sialidase activity
beta-galactosidase activity
protein binding
galactoside binding