Hs00969021_cn

• Gene Symbol: AMPD2
• Assay Reference Genome Location: Chr.1:109629881 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: Overlaps Exon 16 - Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMPD2	NM_001257360.1			NP_001244289.1
	NM_001257361.1			NP_001244290.1
	NM_001308170.1			NP_001295099.1
	NM_004037.7			NP_004028.3
	NM_139156.3			NP_631895.1
	NM_203404.1			NP_981949.1
	AK025706.1
	AK296394.1
	AK302939.1
	AK308907.1
	AK314494.1
	BC007711.2			AAH07711.1
	BC075844.1			AAH75844.1
	S47833.1			AAA11725.1
	U16270.1			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	GSTM4 GNAT2 AMPD2
dgv253n100	Chr.1:109613590 - 109700319 on Build GRCh38	Gain	GSTM4 GNAT2 AMPD2 GSTM1 GSTM2

More Information

• Set Membership: Intragenic, Non-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