Hs06952150_cn

• Gene Symbol: RECQL
• Assay Reference Genome Location: Chr.12:21479813 on build GRCh38
• Cytoband: 12p12.1

Target Gene Details

• Entrez Gene ID: 5965
• Gene Name: RecQ like helicase
• Gene Aliases: RECQL1, RecQ1
• Location: Chr.12:21468910-21501669 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RECQL	NM_002907.3			NP_002898.2
	NM_032941.2			NP_116559.1
	XM_005253461.3			XP_005253518.1
	XM_005253462.4			XP_005253519.1
	XM_005253463.3			XP_005253520.1
	XM_005253464.3			XP_005253521.1
	AK291627.1
	AY157499.1			AAO61939.1
	BC001052.2			AAH01052.1
	BT007119.1			AAP35783.1
	D37984.1			BAA07200.1
	L36140.1			AAA60261.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv557741	Chr.12:21425625 - 22016920 on Build GRCh38	Gain	PYROXD1 GOLT1B LDHB SPX RECQL ABCC9 KCNJ8 GYS2
nsv1054220	Chr.12:21459224 - 21539169 on Build GRCh38	Gain	PYROXD1 GOLT1B SPX RECQL GYS2

More Information

Additional Information:

For this assay, SNP(s) [rs73249914] 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

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

double-strand break repair via homologous recombination
DNA strand renaturation
DNA repair
DNA duplex unwinding

Function(s)

DNA binding
DNA helicase activity
ATP-dependent DNA helicase activity
protein binding
ATP binding
four-way junction helicase activity
annealing helicase activity
ATP-dependent 3'-5' DNA helicase activity