Hs01956907_cn

• Gene Symbol: KRT1
• Assay Reference Genome Location: Chr.12:52676453 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 3848
• Gene Name: keratin 1
• Gene Aliases: CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
• Location: Chr.12:52674736-52680407 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KRT1	NM_006121.3	7	1356	NP_006112.3
	AK313986.1	7	1356
	BC063697.1	7	1338	AAH63697.1
	M10938.1	7	844	AAA36153.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428281	Chr.12:52570654 - 52761443 on Build GRCh38	Gain	KRT73-AS1 KRT2 KRT77 KRT72 KRT73 KRT1 KRT74
nsv832415	Chr.12:52567563 - 52757300 on Build GRCh38	Loss	KRT73-AS1 KRT2 KRT77 KRT72 KRT73 KRT1 KRT74

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

complement activation, lectin pathway
retina homeostasis
response to oxidative stress
fibrinolysis
regulation of angiogenesis
negative regulation of inflammatory response
establishment of skin barrier

Function(s)

receptor activity
structural molecule activity
protein binding
carbohydrate binding