Hs02784369_cn

• Gene Symbol: DDX23
• Assay Reference Genome Location: Chr.12:48834266 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 9416
• Gene Name: DEAD-box helicase 23
• Gene Aliases: PRPF28, SNRNP100, U5-100K, U5-100KD, prp28
• Location: Chr.12:48829756-48852174 on Build GRCh38
• Assay Gene Location: Overlaps Intron 12 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX23	NM_004818.2			NP_004809.2
	AF026402.1			AAB87902.1
	AK128428.1
	AK292921.1
	AK312379.1
	BC002366.2			AAH02366.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv826363	Chr.12:48783444 - 48857206 on Build GRCh38	Gain	LOC100506125 CACNB3 DDX23 RND1 ADCY6

More Information

Additional Information:

For this assay, SNP(s) [rs75988223] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cis assembly of pre-catalytic spliceosome
RNA splicing, via transesterification reactions
mRNA splicing, via spliceosome
RNA splicing
RNA secondary structure unwinding

Function(s)

ATP-dependent RNA helicase activity
protein binding
ATP binding
ATP-dependent helicase activity
poly(A) RNA binding