Hs06203838_cn

• Gene Symbol: MCPH1
• Assay Reference Genome Location: Chr.8:6420471 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 79648
• Gene Name: microcephalin 1
• Gene Aliases: BRIT1, MCT
• Location: Chr.8:6406592-6648505 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCPH1	NM_001172574.1			NP_001166045.1
	NM_001172575.1			NP_001166046.1
	NM_001322042.1			NP_001308971.1
	NM_001322043.1			NP_001308972.1
	NM_001322045.1			NP_001308974.1
	NM_024596.4			NP_078872.2
	NR_136159.1
	XM_011534755.2			XP_011533057.1
	XM_011534756.2			XP_011533058.1
	XM_011534757.2			XP_011533059.1
	XM_011534758.2			XP_011533060.1
	XM_011534759.2			XP_011533061.1
	XM_017013829.1			XP_016869318.1
	XM_017013830.1			XP_016869319.1
	XM_017013831.1			XP_016869320.1
	XM_017013832.1			XP_016869321.1
	XM_017013833.1			XP_016869322.1
	XM_017013834.1			XP_016869323.1
	AK301702.1
	AK308387.1
	BC030702.1			AAH30702.2
	DB051427.1
	DB218495.1
	DC321458.1
	HY014621.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3616092	Chr.8:6419551 - 6431875 on Build GRCh38	Gain	MCPH1
nsv527005	Chr.8:6271530 - 6429649 on Build GRCh38	Gain	LOC100287015 MCPH1
dgv6868n100	Chr.8:6266604 - 6447293 on Build GRCh38	Gain	LOC100287015 MCPH1
nsv524404	Chr.8:6405562 - 6433964 on Build GRCh38	Loss	LOC100287015 MCPH1
nsv1018782	Chr.8:6126510 - 6426852 on Build GRCh38	Loss	LOC100287015 MCPH1
nsv1030323	Chr.8:6410707 - 6421990 on Build GRCh38	Loss	MCPH1
esv3576515	Chr.8:6377962 - 6478027 on Build GRCh38	Gain	LOC100287015 MCPH1
nsv1018882	Chr.8:6347336 - 6432416 on Build GRCh38	Loss	LOC100287015 MCPH1

More Information

Additional Information:

For this assay, SNP(s) [rs73516732,rs77347441] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein, damaged DNA-binding protein, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

cerebral cortex development
mitotic cell cycle arrest

Function(s)

protein binding
identical protein binding