Hs07226241_cn

• Gene Symbol: AMPD1
• Assay Reference Genome Location: Chr.1:114676850 on build GRCh38
• Cytoband: 1p13.2

Target Gene Details

• Entrez Gene ID: 270
• Gene Name: adenosine monophosphate deaminase 1
• Gene Aliases: MAD, MADA, MMDD
• Location: Chr.1:114673098-114695618 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMPD1	NM_000036.2			NP_000027.2
	NM_001172626.1			NP_001166097.1
	AK097077.1
	AK291349.1
	AK314252.1
	M60092.1			AAA57281.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv28734	Chr.1:114376708 - 115005298 on Build GRCh38	Loss	BCAS2 SYCP1 SIKE1 NRAS DENND2C TRIM33 CSDE1 AMPD1
esv3587269	Chr.1:114628472 - 114678474 on Build GRCh38	Loss	DENND2C AMPD1

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

deaminase

Gene Ontology Categories:

Process(es)

response to organic substance
IMP salvage
purine-containing compound salvage

Function(s)

AMP deaminase activity
myosin heavy chain binding
metal ion binding