Hs01177294_cn

• Gene Symbol: GLB1L
• Assay Reference Genome Location: Chr.2:219237141 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 79411
• Gene Name: galactosidase beta 1 like
• Gene Aliases: -
• Location: Chr.2:219236598-219245429 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLB1L	NM_001286423.1	17	2167	NP_001273352.1
	NM_001286427.1	14	1684	NP_001273356.1
	NM_024506.4	17	2155	NP_078782.3
	XM_011511813.2	15	1744	XP_011510115.1
	XM_017004895.1	15	1851	XP_016860384.1
	AK055098.1	12	1342	BAB70855.1
	AK074393.1	11	1335
	AK299404.1	16	1916
	AK300215.1	14	1667
	AY358639.1	17	2135	AAQ89002.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834543	Chr.2:219226398 - 219416430 on Build GRCh38	Loss	MIR153-1 ANKZF1 TUBA4A ATG9A DNPEP PTPRN DNAJB2 TUBA4B STK16 GLB1L RESP18
esv3594357	Chr.2:219236349 - 219237364 on Build GRCh38	Loss	ANKZF1 GLB1L
esv3893555	Chr.2:219172722 - 219273269 on Build GRCh38	Loss	FAM134A ANKZF1 ZFAND2B TUBA4A ATG9A TUBA4B CNPPD1 STK16 GLB1L ABCB6
nsv508885	Chr.2:219231225 - 219333602 on Build GRCh38	Insertion	MIR153-1 ANKZF1 TUBA4A PTPRN DNAJB2 TUBA4B STK16 GLB1L RESP18

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

galactosidase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process

Function(s)

beta-galactosidase activity