Hs01694559_cn

• Gene Symbol: MAD2L1BP
• Assay Reference Genome Location: Chr.6:43640528 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAD2L1BP	NM_001003690.1	4	1124	NP_001003690.1
	NM_014628.2	3	856	NP_055443.1
	AA883912.1	1	428
	AK297172.1	3	877
	BC002904.2	3	826	AAH02904.1
	CR456893.1			CAG33174.1
	D14811.1	3	823	BAA03552.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv5281	Chr.6:43611090 - 43655905 on Build GRCh38	Deletion	POLH GTPBP2 RSPH9 MAD2L1BP

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mitotic cell cycle checkpoint
regulation of exit from mitosis

Function(s)

protein binding