Hs01043157_cn

• Gene Symbol: GNPDA1
• Assay Reference Genome Location: Chr.5:142001565 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 Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNPDA1	NM_005471.4	7	1401	NP_005462.1
	XM_005268348.1	7	1658	XP_005268405.1
	XM_006714747.2	8	1425	XP_006714810.1
	XM_011537537.1	8	1720	XP_011535839.1
	AF029914.1	6	1347	AAB84217.1
	AJ002231.1	6	2093	CAA05259.1
	AK022779.1	6	1271
	BC022322.1	7	1373	AAH22322.1
	D31766.1	8	1735

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	GNPDA1 HDAC3 NDFIP1 ARAP3 LOC729080 RNF14 RELL2 KIAA0141 PCDH1 FCHSD1 PCDH12
nsv5036	Chr.5:141978308 - 142008100 on Build GRCh38	Insertion	GNPDA1 RNF14

More Information

• Set Membership: Intragenic, 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