Hs04020899_cn

• Gene Symbol: BHMG1
• Assay Reference Genome Location: Chr.19:45754694 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 388553
• Gene Name: basic helix-loop-helix and HMG-box containing 1
• Gene Aliases: HMGDC
• Location: Chr.19:45733251-45764692 on Build GRCh38
• Assay Gene Location: Overlaps Exon 9 - Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BHMG1	NM_001310124.1			NP_001297053.1
	XM_011527571.2			XP_011525873.1
	XM_011527573.2			XP_011525875.1
	XM_011527574.2			XP_011525876.1
	BQ215245.1
	DV080301.1
	DV080302.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv579870	Chr.19:45704552 - 45814335 on Build GRCh38	Loss	DMWD SIX5 BHMG1 FBXO46 DMPK RSPH6A
esv987735	Chr.19:45742165 - 45761112 on Build GRCh38	Deletion	BHMG1

More Information

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

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated

Function(s)

DNA binding
protein dimerization activity