Hs01778699_cn

• Gene Symbol: KRTAP11-1
• Assay Reference Genome Location: Chr.21:30881326 on build GRCh38
• Cytoband: 21q22.11

Target Gene Details

• Entrez Gene ID: 337880
• Gene Name: keratin associated protein 11-1
• Gene Aliases: HACL-1, HACL1, KAP11.1
• Location: Chr.21:30880644-30881555 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KRTAP11-1	NM_175858.2	1	230	NP_787054.1
	AB096963.1	1	208	BAE46378.1
	AJ457065.1	1	230	CAD29721.1
	BC130555.1	1	223
	BC130557.1	1	223

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834078	Chr.21:30847656 - 31014506 on Build GRCh38	Gain	KRTAP11-1
nsv834077	Chr.21:30758503 - 30921578 on Build GRCh38	Gain	KRTAP8-1 KRTAP11-1 KRTAP7-1
nsv518454	Chr.21:30842336 - 30927564 on Build GRCh38	Loss	KRTAP11-1
nsv1057467	Chr.21:30318003 - 30993921 on Build GRCh38	Gain	KRTAP13-1 KRTAP19-6 KRTAP13-4 KRTAP11-1 KRTAP13-2 KRTAP27-1 KRTAP20-3 KRTAP19-7 KRTAP6-2 KRTAP19-2 KRTAP21-3 KRTAP15-1 KRTAP13-3 KRTAP19-5 KRTAP20-2 KRTAP23-1 KRTAP7-1 KRTAP20-4 KRTAP19-1 KRTAP22-2 KRTAP6-1 KRTAP21-2 KRTAP8-1 KRTAP21-1 KRTAP20-1 KRTAP19-3 KRTAP6-3 MIR4327 KRTAP22-1 KRTAP19-4 KRTAP26-1
esv3646842	Chr.21:30849249 - 30930214 on Build GRCh38	Loss	KRTAP11-1

More Information

Additional Information:

For this assay, SNP(s) [rs79258920] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

structural protein

Gene Ontology Categories:

Function(s)

structural molecule activity