Hs05333260_cn

• Gene Symbol: DPH6
• Assay Reference Genome Location: Chr.15:35251743 on build GRCh38
• Cytoband: 15q14

Target Gene Details

• Entrez Gene ID: 89978
• Gene Name: diphthamine biosynthesis 6
• Gene Aliases: ATPBD4
• Location: Chr.15:35217356-35546222 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DPH6	XM_017022708.1			XP_016878197.1
	BX537862.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1487	Chr.15:35228589 - 35258344 on Build GRCh38	Insertion	DPH6 ANP32AP1

More Information

Additional Information:

For this assay, SNP(s) [rs79365201] 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

Gene Ontology Categories:

Process(es)

peptidyl-diphthamide biosynthetic process from peptidyl-histidine
regulation of protein stability
positive regulation of protein targeting to mitochondrion

Function(s)

ATP binding
diphthine-ammonia ligase activity