Hs06053742_cn

• Gene Symbol: ALDH7A1
• Assay Reference Genome Location: Chr.5:126546229 on build GRCh38
• Cytoband: 5q23.2

Target Gene Details

• Entrez Gene ID: 501
• Gene Name: aldehyde dehydrogenase 7 family member A1
• Gene Aliases: ATQ1, EPD, PDE
• Location: Chr.5:126541841-126595390 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALDH7A1	NM_001182.4			NP_001173.2
	NM_001201377.1			NP_001188306.1
	NM_001202404.1			NP_001189333.2
	XM_011543417.2			XP_011541719.1
	XM_017009493.1			XP_016864982.1
	AK092507.1
	AK295526.1
	AK297365.1
	AK312459.1
	BC002515.2
	BC071712.1			AAH71712.1
	BC073174.1			AAH73174.1
	S74728.1			AAB31966.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3606679	Chr.5:126424914 - 126763280 on Build GRCh38	Gain	LOC102723557 PHAX ALDH7A1 TEX43 GRAMD3
esv3606680	Chr.5:126475605 - 126628219 on Build GRCh38	Gain	PHAX ALDH7A1 GRAMD3

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

cellular aldehyde metabolic process
lysine catabolic process
sensory perception of sound
glycine betaine biosynthetic process from choline
choline catabolic process
oxidation-reduction process

Function(s)

aldehyde dehydrogenase (NAD) activity
L-aminoadipate-semialdehyde dehydrogenase activity
protein binding
betaine-aldehyde dehydrogenase activity