Hs06527157_cn

• Gene Symbol: FH
• Assay Reference Genome Location: Chr.1:241502051 on build GRCh38
• Cytoband: 1q43

Target Gene Details

• Entrez Gene ID: 2271
• Gene Name: fumarate hydratase
• Gene Aliases: FMRD, HLRCC, LRCC, MCL, MCUL1
• Location: Chr.1:241497557-241519785 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FH	NM_000143.3			NP_000134.2
	XM_011544132.2			XP_011542434.1
	AA669797.1
	AK312415.1
	BC003108.1			AAH03108.1
	BC017444.1			AAH17444.1
	BT009839.1			AAP88841.1
	KU178071.1
	KU178072.1
	KU178073.1
	KU178074.1
	KU178075.1
	KU178076.1
	M15502.1			AAA52483.1
	U48857.1			AAD00071.1
	U59309.1			AAB66354.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv549460	Chr.1:241331278 - 241669985 on Build GRCh38	Gain	CHML KMO RGS7 FH WDR64 OPN3
nsv1002214	Chr.1:241295639 - 241936488 on Build GRCh38	Gain	CHML KMO RGS7 EXO1 FH WDR64 OPN3

More Information

Additional Information:

For this assay, SNP(s) [rs143840817,rs68119865] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

tricarboxylic acid cycle
fumarate metabolic process
malate metabolic process
homeostasis of number of cells within a tissue
protein tetramerization

Function(s)

fumarate hydratase activity
protein binding