Hs05526599_cn

• Gene Symbol: PYGB
• Assay Reference Genome Location: Chr.20:25249297 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 5834
• Gene Name: phosphorylase, glycogen; brain
• Gene Aliases: GPBB
• Location: Chr.20:25248070-25298012 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PYGB	NM_002862.3			NP_002853.2
	AB209080.1			BAD92317.1
	AK299697.1
	AK309036.1
	BC017045.2			AAH17045.1
	BC030795.2			AAH30795.1
	BQ433140.1
	J03544.1			AAA59597.1
	U47025.1			AAB60395.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv779e214	Chr.20:25104610 - 25367702 on Build GRCh38	Gain	PYGB LOC284798 LOC101926889 LOC105372580 ENTPD6 ABHD12
nsv828708	Chr.20:25243259 - 25250965 on Build GRCh38	Gain	PYGB LOC105372580
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	VSX1 GINS1 LOC105372585 NANP LOC105372580 LOC105372582 NCOR1P1 FLJ33581 APMAP SYNDIG1 FAM182A ACSS1 PYGB GGTLC1 LOC284798 FAM182B NINL ENTPD6 LOC101926935 VN1R108P LOC101926955 LOC101926889 ZNF337 ZNF337-AS1 ABHD12 LOC100134868 CST7
nsv585746	Chr.20:25090818 - 25489420 on Build GRCh38	Gain	PYGB LOC284798 LOC101926889 GINS1 NINL LOC105372580 ENTPD6 ABHD12
dgv4290n100	Chr.20:25086650 - 25494993 on Build GRCh38	Gain	PYGB LOC284798 LOC101926889 GINS1 NINL LOC105372580 ENTPD6 ABHD12

More Information

Additional Information:

For this assay, SNP(s) [rs68007865] 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

Panther Classification:

Molecular Function -

glycosyltransferase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

glycogen catabolic process

Function(s)

protein binding
glycogen phosphorylase activity
pyridoxal phosphate binding