Hs06055977_cn

• Gene Symbol: GNPDA1
• Assay Reference Genome Location: Chr.5:142004016 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 10007
• Gene Name: glucosamine-6-phosphate deaminase 1
• Gene Aliases: GNP1, GNPDA, GNPI, GPI, HLN
• Location: Chr.5:142000669-142013055 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNPDA1	NM_005471.4			NP_005462.1
	XM_005268348.1			XP_005268405.1
	XM_006714747.2			XP_006714810.1
	XM_011537537.1			XP_011535839.1
	AF029914.1			AAB84217.1
	AF048826.1			AAC05123.1
	AJ002231.1			CAA05259.1
	AK022779.1
	AK290686.1
	AK296452.1
	BC012853.2			AAH12853.1
	BC020769.1			AAH20769.1
	BC022322.1			AAH22322.1
	D31766.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1154058	Chr.5:141632251 - 142199943 on Build GRCh38	Deletion	ARAP3 PCDH1 KIAA0141 NDFIP1 RELL2 PCDH12 LOC729080 FCHSD1 HDAC3 GNPDA1 RNF14
nsv5036	Chr.5:141978308 - 142008100 on Build GRCh38	Insertion	GNPDA1 RNF14

More Information

Additional Information:

For this assay, SNP(s) [rs113602012] 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 -

isomerase

Gene Ontology Categories:

Process(es)

glucose metabolic process
glucosamine catabolic process
N-acetylglucosamine catabolic process
UDP-N-acetylglucosamine biosynthetic process
generation of precursor metabolites and energy
single fertilization
N-acetylneuraminate catabolic process

Function(s)

glucosamine-6-phosphate deaminase activity
protein binding
hydrolase activity