Hs06778556_cn

• Gene Symbol: CDKAL1
• Assay Reference Genome Location: Chr.6:20580470 on build GRCh38
• Cytoband: 6p22.3

Target Gene Details

• Entrez Gene ID: 54901
• Gene Name: CDK5 regulatory subunit associated protein 1 like 1
• Gene Aliases: -
• Location: Chr.6:20534457-21232404 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDKAL1	NM_017774.3			NP_060244.2
	XM_011514718.1			XP_011513020.1
	XM_011514719.2			XP_011513021.1
	XM_017010986.1			XP_016866475.1
	XM_017010987.1			XP_016866476.1
	AK000349.1			BAA91102.1
	AK128546.1			BAC87494.1
	AK291735.1
	AK310219.1
	BC121020.1
	BC121021.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1024963	Chr.6:20474387 - 20862380 on Build GRCh38	Gain	CDKAL1 E2F3

More Information

Additional Information:

For this assay, SNP(s) [rs72830632] 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)

tRNA modification
biological_process
tRNA methylthiolation
maintenance of translational fidelity

Function(s)

molecular_function
protein binding
N6-threonylcarbomyladenosine methylthiotransferase activity
metal ion binding
4 iron, 4 sulfur cluster binding
tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase