Hs01215476_cn

• Gene Symbol: KRTAP12-4
• Assay Reference Genome Location: Chr.21:44654364 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 386684
• Gene Name: keratin associated protein 12-4
• Gene Aliases: KRTAP12.4
• Location: Chr.21:44654213-44654659 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KRTAP12-4	NM_198698.1	1	296	NP_941971.1
	AB076360.1	1	296	BAD01547.1
	BC125198.1	1	296

Target Gene Details

• Entrez Gene ID: 54084
• Gene Name: thrombospondin type laminin G domain and EAR repeats
• Gene Aliases: C21orf29, DFNB98, TSP-EAR
• Location: Chr.21:44497892-44711580 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSPEAR	NM_001272037.1			NP_001258966.1
	NM_144991.2			NP_659428.2
	AJ487962.1			CAD32309.1
	BC115415.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2760705	Chr.21:44629373 - 44694682 on Build GRCh38	Gain	KRTAP12-3 KRTAP12-4 KRTAP12-1 KRTAP10-11 KRTAP12-2 TSPEAR KRTAP10-10
esv2723675	Chr.21:44602654 - 44768117 on Build GRCh38	Deletion	KRTAP12-3 KRTAP10-9 KRTAP10-12 KRTAP12-4 KRTAP12-1 KRTAP10-8 KRTAP10-11 KRTAP12-2 TSPEAR KRTAP10-10

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

intercellular signal molecule

Gene Ontology Categories:

Process(es)

sensory perception of sound

Function(s)

protein binding
molecular_function