Hs06765030_cn

• Gene Symbol: GMDS
• Assay Reference Genome Location: Chr.6:1634070 on build GRCh38
• Cytoband: 6p25.3

Target Gene Details

• Entrez Gene ID: 2762
• Gene Name: GDP-mannose 4,6-dehydratase
• Gene Aliases: GMD, SDR3E1
• Location: Chr.6:1623800-2245634 on Build GRCh38
• Assay Gene Location: Within Intron 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GMDS	NM_001253846.1			NP_001240775.1
	NM_001500.3			NP_001491.1
	XM_011514500.1			XP_011512802.1
	XM_017010752.1			XP_016866241.1
	AF040260.1			AAC24501.1
	AF042377.1			AAC13553.1
	AI761361.1
	AK057484.1
	AK313953.1
	BC000117.1			AAH00117.1
	CR541929.1			CAG46727.1
	CR541947.1			CAG46745.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1016859	Chr.6:1459785 - 1645585 on Build GRCh38	Gain	GMDS FOXC1 FOXCUT

More Information

Additional Information:

For this assay, SNP(s) [rs79850280] 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 -

dehydratase

Gene Ontology Categories:

Process(es)

Notch signaling pathway
GDP-mannose metabolic process
'de novo' GDP-L-fucose biosynthetic process

Function(s)

protein binding
GDP-mannose 4,6-dehydratase activity
NADP+ binding