Hs01951753_cn

• Gene Symbol: MYBPH
• Assay Reference Genome Location: Chr.1:203169377 on build GRCh38
• Cytoband: 1q32.1

Target Gene Details

• Entrez Gene ID: 4608
• Gene Name: myosin binding protein H
• Gene Aliases: -
• Location: Chr.1:203167811-203175814 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYBPH	NM_004997.2			NP_004988.2
	BC044226.1			AAH44226.1
	L05606.1			AAA36339.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952639	Chr.1:203164873 - 203186672 on Build GRCh38	Deletion	ADORA1 MYBPH CHI3L1
nsv832370	Chr.1:202997191 - 203196105 on Build GRCh38	Loss	PPFIA4 LOC100506747 MYOG ADORA1 MYBPH TMEM183A CHI3L1

More Information

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

Gene Ontology Categories:

Process(es)

regulation of striated muscle contraction
cell adhesion

Function(s)

protein binding
structural constituent of muscle