Hs01995316_cn

• Gene Symbol: NAXD
• Assay Reference Genome Location: Chr.13:110639898 on build GRCh38
• Cytoband: 13q34

Target Gene Details

• Entrez Gene ID: 55739
• Gene Name: NAD(P)HX dehydratase
• Gene Aliases: CARKD, LP3298
• Location: Chr.13:110615460-110639996 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NAXD	NM_001242881.1	10	2505	NP_001229810.1
	NM_001242882.1	10	2502	NP_001229811.1
	NM_001242883.1	7	2216	NP_001229812.1
	NM_018210.3	10	2641	NP_060680.2
	NR_040103.1	10	2497
	NR_040104.1	9	2413
	AF151071.1	1	786	AAF36157.1
	AK001631.1	10	2564	BAA91797.1
	AK024260.1	9	2282	BAB14863.1
	AK057767.1	9	1759
	AK058043.1	1	3382
	AK091867.1	1	2569
	AK093771.1	10	2423
	AK225129.1	10	2427
	BC041028.1	10	2436	AAH41028.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv563125	Chr.13:110627655 - 110657270 on Build GRCh38	Loss	CARS2 NAXD
nsv1044234	Chr.13:110490706 - 110718233 on Build GRCh38	Gain	ING1 COL4A2 CARS2 NAXD LOC105376684 RAB20 COL4A2-AS1
nsv563124	Chr.13:110608920 - 110648596 on Build GRCh38	Loss	CARS2 NAXD
nsv832720	Chr.13:110447888 - 110643646 on Build GRCh38	Loss	COL4A2-AS2 COL4A2 CARS2 NAXD RAB20 COL4A2-AS1
nsv1042232	Chr.13:110629776 - 110696128 on Build GRCh38	Gain	CARS2 NAXD
nsv1044340	Chr.13:110581726 - 111040647 on Build GRCh38	Gain	LINC00431 LINC00567 ING1 LINC00346 CARS2 NAXD LOC105376684 LOC105370362 LOC105370363 ANKRD10

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydratase, lyase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

nicotinamide metabolic process
biological_process
nicotinamide nucleotide metabolic process

Function(s)

molecular_function
protein binding
ATP binding
ATP-dependent NAD(P)H-hydrate dehydratase activity
ADP-dependent NAD(P)H-hydrate dehydratase activity