Hs07085921_cn

• Gene Symbol: ARG2
• Assay Reference Genome Location: Chr.14:67643235 on build GRCh38
• Cytoband: 14q24.1

Target Gene Details

• Entrez Gene ID: 384
• Gene Name: arginase 2
• Gene Aliases: -
• Location: Chr.14:67619862-67651720 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARG2	NM_001172.3			NP_001163.1
	AK312484.1
	AY074489.1			AAL71548.1
	BC001350.1			AAH01350.1
	BC008464.1			AAH08464.1
	BC029050.1			AAH29050.1
	CR536550.1			CAG38787.1
	D86724.1			BAA13158.1
	U75667.1			AAB39855.1
	U82256.1			AAC51664.1

Target Gene Details

• Entrez Gene ID: 10243
• Gene Name: gephyrin
• Gene Aliases: GEPH, GPH, GPHRYN, HKPX1, MOCODC
• Location: Chr.14:66507407-67735831 on Build GRCh38
• Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPHN	XM_017020925.1			XP_016876414.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470651	Chr.14:67266144 - 67646576 on Build GRCh38	Gain	ARG2 MPP5 ATP6V1D GPHN MIR5694 PLEK2 EIF2S1 LOC105370541 PLEKHH1 HMGB1P34 PIGH TMEM229B

More Information

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

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

urea cycle
ureteric bud development
arginine metabolic process
nitric oxide biosynthetic process
striated muscle contraction
Mo-molybdopterin cofactor biosynthetic process
molybdenum incorporation into molybdenum-molybdopterin complex
molybdopterin cofactor biosynthetic process
glycine receptor clustering
gamma-aminobutyric acid receptor clustering

Function(s)

arginase activity
metal ion binding
protein binding
ATP binding
molybdopterin adenylyltransferase activity
molybdopterin molybdotransferase activity