Hs02489367_cn

• Gene Symbol: GNPNAT1
• Assay Reference Genome Location: Chr.14:52776495 on build GRCh38
• Cytoband: 14q22.1

Target Gene Details

• Entrez Gene ID: 64841
• Gene Name: glucosamine-phosphate N-acetyltransferase 1
• Gene Aliases: GNA1, GNPNAT, Gpnat1
• Location: Chr.14:52775193-52791668 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNPNAT1	NM_198066.3	6	2626	NP_932332.1
	XM_005268012.2	7	2660	XP_005268069.1
	XM_006720238.3	6	2759	XP_006720301.1
	AK001469.1	2	1996
	AK025575.1	1	995
	CA489597.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832796	Chr.14:52680158 - 52860182 on Build GRCh38	Loss	FERMT2 STYX ERO1A GNPNAT1 PSMC6
nsv1050582	Chr.14:52773715 - 52861657 on Build GRCh38	Gain	FERMT2 STYX GNPNAT1
nsv1279	Chr.14:52754853 - 52788471 on Build GRCh38	Insertion	STYX GNPNAT1
nsv470647	Chr.14:52730993 - 52831559 on Build GRCh38	Gain	STYX GNPNAT1

More Information

Additional Information:

For this assay, SNP(s) [rs149932355] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

acetyltransferase

Gene Ontology Categories:

Process(es)

liver development
glucosamine metabolic process
N-acetylglucosamine metabolic process
UDP-N-acetylglucosamine biosynthetic process

Function(s)

glucosamine 6-phosphate N-acetyltransferase activity
identical protein binding
monosaccharide binding