Hs03590918_cn

• Gene Symbol: CMAHP
• Assay Reference Genome Location: Chr.6:25138366 on build GRCh38
• Cytoband: 6p22.3

Target Gene Details

• Entrez Gene ID: 8418
• Gene Name: cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
• Gene Aliases: CMAH, CSAH
• Location: Chr.6:25081067-25138392 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CMAHP	NR_027626.1
	AK303297.1
	DA976765.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470806	Chr.6:25082034 - 25155969 on Build GRCh38	Loss	CMAHP
nsv1025694	Chr.6:25136632 - 25309222 on Build GRCh38	Gain	CARMIL1 LOC105375106 LOC101928663 CMAHP
nsv830611	Chr.6:25039146 - 25198884 on Build GRCh38	Loss	FAM65B CMAHP
nsv601166	Chr.6:25084490 - 25165258 on Build GRCh38	Loss	CMAHP

More Information

Additional Information:

For this assay, SNP(s) [rs75800218] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of Wnt signaling pathway

Function(s)

CMP-N-acetylneuraminate monooxygenase activity
2 iron, 2 sulfur cluster binding