Hs00406575_cn

• Gene Symbol: KAZN
• Assay Reference Genome Location: Chr.1:15116938 on build GRCh38
• Cytoband: 1p36.21

Target Gene Details

• Entrez Gene ID: 23254
• Gene Name: kazrin, periplakin interacting protein
• Gene Aliases: KAZ
• Location: Chr.1:13893387-15118048 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KAZN	NM_201628.2	15	4912	NP_963922.2
	XM_005245795.4	17	5167	XP_005245852.1
	XM_011541074.2	16	7103	XP_011539376.1
	XM_011541075.2	14	6759	XP_011539377.1
	XM_011541076.2	14	6904	XP_011539378.1
	XM_011541077.2	14	7883	XP_011539379.1
	XM_011541081.2	8	5583	XP_011539383.1
	AF052120.1	1	568
	AK057155.1	1	1472
	AK125388.1	1	2087

Target Gene Details

• Entrez Gene ID: 200197
• Gene Name: TMEM51 antisense RNA 1
• Gene Aliases: C1orf126
• Location: Chr.1:15111815-15152464 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM51-AS1	NR_027136.1	5	1856
	AK074283.1	6	1979	BAB85035.1
	AK124431.1	5	1794

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833425	Chr.1:15083330 - 15291728 on Build GRCh38	Gain	TMEM51 FHAD1 TMEM51-AS1 KAZN C1orf195
nsv508913	Chr.1:15092390 - 15165461 on Build GRCh38	Insertion	TMEM51 TMEM51-AS1 KAZN C1orf195
nsv545591	Chr.1:14880515 - 15130423 on Build GRCh38	Loss	TMEM51-AS1 KAZN

More Information

Additional Information:

For this assay, SNP(s) [rs142312366,rs72640734] 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

Gene Ontology Categories:

Process(es)

keratinization

Function(s)

protein binding