Hs02989082_cn

• Gene Symbol: KNL1
• Assay Reference Genome Location: Chr.15:40602885 on build GRCh38
• Cytoband: 15q15.1

Target Gene Details

• Entrez Gene ID: 57082
• Gene Name: kinetochore scaffold 1
• Gene Aliases: AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105
• Location: Chr.15:40594012-40664342 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KNL1	NM_144508.4			NP_653091.3
	NM_170589.4			NP_733468.3
	XM_017022432.1			XP_016877921.1
	AB022190.1			BAC05691.1
	AF173994.1			AAM45143.1
	AF248041.1			AAF97513.1
	AF461041.1			AAL67803.1
	AK307605.1
	AK307996.1
	BC029373.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2760026	Chr.15:40540346 - 40702913 on Build GRCh38	Loss	RAD51 C15orf57 KNL1 RAD51-AS1 RPUSD2
nsv832984	Chr.15:40502192 - 40706337 on Build GRCh38	Loss	RAD51 MRPL42P5 C15orf57 KNL1 RAD51-AS1 RPUSD2

More Information

Additional Information:

For this assay, SNP(s) [rs116578977] 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)

acrosome assembly
sister chromatid cohesion
mitotic nuclear division
attachment of spindle microtubules to kinetochore
negative regulation of phosphatase activity
CENP-A containing nucleosome assembly
protein localization to kinetochore
cell division
spindle assembly checkpoint

Function(s)

protein binding