Hs05342992_cn

• Gene Symbol: FAH
• Assay Reference Genome Location: Chr.15:80154120 on build GRCh38
• Cytoband: 15q25.1

Target Gene Details

• Entrez Gene ID: 2184
• Gene Name: fumarylacetoacetate hydrolase
• Gene Aliases: -
• Location: Chr.15:80152891-80186582 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAH	NM_000137.2			NP_000128.1
	AK297965.1
	AK313951.1
	BC002527.1			AAH02527.1
	BQ225295.1
	BT007160.1			AAP35824.1
	M55150.1			AAA52422.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1634	Chr.15:80126969 - 80172313 on Build GRCh38	Deletion	ZFAND6 FAH

More Information

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

Gene Ontology Categories:

Process(es)

arginine catabolic process
L-phenylalanine catabolic process
tyrosine catabolic process

Function(s)

fumarylacetoacetase activity
protein binding
metal ion binding