Hs02713766_cn

• Gene Symbol: AMPD2
• Assay Reference Genome Location: Chr.1:109628159 on build GRCh38
• Cytoband: 1p13.3

Target Gene Details

• Entrez Gene ID: 271
• Gene Name: adenosine monophosphate deaminase 2
• Gene Aliases: PCH9, SPG63
• Location: Chr.1:109619813-109632055 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMPD2	NM_001257360.1	11	1885	NP_001244289.1
	NM_001257361.1	10	1168	NP_001244290.1
	NM_001308170.1	9	1288	NP_001295099.1
	NM_004037.7	10	1752	NP_004028.3
	NM_139156.3	10	1532	NP_631895.1
	NM_203404.1	8	1170	NP_981949.1
	AK025706.1	10	1508
	AK296394.1	10	1124
	AK302939.1	10	1130
	AK308907.1	11	1358
	AK314494.1	11	1808
	BC007711.2	10	1457	AAH07711.1
	BC075844.1	10	1457	AAH75844.1
	S47833.1	9	1143	AAA11725.1
	U16270.1	5	556	AAC50308.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2299	Chr.1:109610296 - 109662341 on Build GRCh38	Deletion	AMPD2 GNAT2 GSTM4
dgv253n100	Chr.1:109613590 - 109700319 on Build GRCh38	Gain	GSTM2 AMPD2 GNAT2 GSTM1 GSTM4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

deaminase

Gene Ontology Categories:

Process(es)

IMP biosynthetic process
IMP salvage
purine-containing compound salvage
AMP metabolic process
ATP metabolic process
GTP metabolic process
cyclic purine nucleotide metabolic process
energy homeostasis

Function(s)

AMP deaminase activity
protein binding
metal ion binding