Hs06780366_cn

• Gene Symbol: HMGCLL1
• Assay Reference Genome Location: Chr.6:55437371 on build GRCh38
• Cytoband: 6p12.1

Target Gene Details

• Entrez Gene ID: 54511
• Gene Name: 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1
• Gene Aliases: bA418P12.1, er-cHL
• Location: Chr.6:55434373-55579214 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HMGCLL1	NM_001042406.1			NP_001035865.1
	NM_001287741.1			NP_001274670.1
	NM_001287746.1			NP_001274675.1
	NM_001287753.1			NP_001274682.1
	NM_019036.2			NP_061909.2
	NR_109869.1
	AF131827.1			AAD20054.1
	AK055075.1
	AK127587.1			BAC87045.1
	AK293856.1
	AK294210.1
	AK297191.1
	BC024194.2			AAH24194.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1018622	Chr.6:55433056 - 55455513 on Build GRCh38	Loss	HMGCLL1
dgv5965n100	Chr.6:55372925 - 55522683 on Build GRCh38	Gain	HMGCLL1 GFRAL
nsv470819	Chr.6:55372139 - 55504017 on Build GRCh38	Gain	HMGCLL1 GFRAL
nsv5311	Chr.6:55394592 - 55439247 on Build GRCh38	Deletion	HMGCLL1 GFRAL
nsv1034037	Chr.6:55357611 - 56204802 on Build GRCh38	Gain	COL21A1 HMGCLL1 BMP5 GFRAL
nsv462948	Chr.6:55373293 - 55504017 on Build GRCh38	Gain	HMGCLL1 GFRAL

More Information

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

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

ketone body biosynthetic process

Function(s)

hydroxymethylglutaryl-CoA lyase activity
metal ion binding