Hs06770720_cn

• Gene Symbol: MAD2L1BP
• Assay Reference Genome Location: Chr.6:43631191 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 9587
• Gene Name: MAD2L1 binding protein
• Gene Aliases: CMT2
• Location: Chr.6:43629542-43640952 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAD2L1BP	NM_001003690.1			NP_001003690.1
	AL537692.3
	BE297042.1
	BU845738.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2675471	Chr.6:43630592 - 43632905 on Build GRCh38	Deletion	MAD2L1BP
esv3608815	Chr.6:43630673 - 43633018 on Build GRCh38	Loss	MAD2L1BP
nsv5281	Chr.6:43611090 - 43655905 on Build GRCh38	Deletion	MAD2L1BP POLH RSPH9 GTPBP2

More Information

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

Gene Ontology Categories:

Process(es)

mitotic cell cycle checkpoint
regulation of exit from mitosis

Function(s)

protein binding