Hs04302723_cn

• Gene Symbol: AMACR
• Assay Reference Genome Location: Chr.5:33994028 on build GRCh38
• Cytoband: 5p13.2

Target Gene Details

• Entrez Gene ID: 23600
• Gene Name: alpha-methylacyl-CoA racemase
• Gene Aliases: AMACRD, CBAS4, RACE, RM
• Location: Chr.5:33986986-34008115 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMACR	NM_001167595.1			NP_001161067.1
	NM_014324.5			NP_055139.4
	NM_203382.2			NP_976316.1
	AF047020.1			AAD10205.1
	AF158378.1			AAF22610.1
	AJ130733.1			CAB44062.1
	AK000912.1
	AK222831.1			BAD96551.1
	AK225749.1
	AK292988.1
	AL545355.3
	AL571115.3
	AY935981.1			AAY16192.1
	BC009471.1			AAH09471.1
	BG708726.1
	BQ941482.1
	BT007193.1			AAP35857.1
	EF560721.1
	FJ498906.1
	FJ498907.1
	FJ498908.1	4	683

Target Gene Details

• Entrez Gene ID: 100534612
• Gene Name: C1QTNF3-AMACR readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.5:33986986-34124528 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C1QTNF3-AMACR	NR_037951.1
	AB209261.1			BAD92498.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3604666	Chr.5:33947465 - 34004885 on Build GRCh38	Gain	AMACR SLC45A2 C1QTNF3-AMACR
esv3604667	Chr.5:33992263 - 33995770 on Build GRCh38	Loss	AMACR C1QTNF3-AMACR
esv33890	Chr.5:33989467 - 33994643 on Build GRCh38	Gain+Loss	AMACR C1QTNF3-AMACR
nsv830255	Chr.5:33929507 - 34109160 on Build GRCh38	Loss	AMACR C1QTNF3 RXFP3 SLC45A2 C1QTNF3-AMACR
nsv519240	Chr.5:33950598 - 34749311 on Build GRCh38	Gain	LOC646652 LOC105374753 AMACR C1QTNF3 SLC45A2 RAI14 C1QTNF3-AMACR
nsv522715	Chr.5:33319157 - 34037875 on Build GRCh38	Gain	ADAMTS12 AMACR C1QTNF3 RXFP3 SLC45A2 TARS C1QTNF3-AMACR

More Information

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

Panther Classification:

Molecular Function -

transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

bile acid biosynthetic process
bile acid metabolic process
fatty acid beta-oxidation using acyl-CoA oxidase

Function(s)

receptor binding
alpha-methylacyl-CoA racemase activity