Hs03379912_cn

• Gene Symbol: TCHH
• Assay Reference Genome Location: Chr.1:152114045 on build GRCh38
• Cytoband: 1q21.3

Target Gene Details

• Entrez Gene ID: 7062
• Gene Name: trichohyalin
• Gene Aliases: THH, THL, TRHY
• Location: Chr.1:152106317-152115454 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TCHH	NM_007113.3	2	131	NP_009044.2
	AY827491.1	2	121	AAX12418.1
	BC131826.1	1	1495
	BC131827.1	1	1495

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1007097	Chr.1:151860320 - 152255501 on Build GRCh38	Gain	TCHHL1 NBPF18P HRNR LOC100131107 S100A11 S100A10 TCHH RPTN THEM4
nsv2866	Chr.1:152088370 - 152120918 on Build GRCh38	Insertion	TCHHL1 TCHH
nsv547853	Chr.1:152036195 - 152264284 on Build GRCh38	Gain	TCHHL1 HRNR LOC100131107 S100A11 TCHH RPTN

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process
keratinization
intermediate filament organization

Function(s)

calcium ion binding
protein binding, bridging