Hs00448046_cn

• Gene Symbol: MAD2L1BP
• Assay Reference Genome Location: Chr.6:43640395 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	991	NP_001003690.1
	NM_014628.2	3	723	NP_055443.1
	AA883912.1	1	561
	AK297172.1	3	744
	BC002904.2	3	693	AAH02904.1
	BI255998.1
	CB991410.1
	CR456893.1	3	687	CAG33174.1
	D14811.1	3	690	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	RSPH9 MAD2L1BP POLH GTPBP2

More Information

Additional Information:

For this assay, SNP(s) [rs146911441] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mitotic cell cycle checkpoint
regulation of exit from mitosis

Function(s)

protein binding