Hs02564104_cn

• Gene Symbol: HELB
• Assay Reference Genome Location: Chr.12:66315282 on build GRCh38
• Cytoband: 12q14.3

Target Gene Details

• Entrez Gene ID: 92797
• Gene Name: DNA helicase B
• Gene Aliases: DHB, hDHB
• Location: Chr.12:66302545-66343643 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HELB	NM_033647.4			NP_387467.2
	NR_135080.1
	NR_135081.1
	XM_005269234.2			XP_005269291.1
	XM_017020230.1			XP_016875719.1
	AF319995.1			AAM73554.1
	AK290894.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892212	Chr.12:66302630 - 66471921 on Build GRCh38	Loss	GRIP1 HELB

More Information

Additional Information:

For this assay, SNP(s) [rs75324469] 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

Panther Classification:

Molecular Function -

RNA helicase

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
DNA replication
DNA replication, synthesis of RNA primer
DNA repair
cellular response to DNA damage stimulus
DNA duplex unwinding
regulation of DNA double-strand break processing
negative regulation of double-strand break repair via homologous recombination

Function(s)

ATP-dependent RNA helicase activity
ATP binding
single-stranded DNA-dependent ATP-dependent DNA helicase activity
ATP-dependent 5'-3' DNA helicase activity
poly(A) RNA binding