Hs03644956_cn

• Gene Symbol: COL26A1
• Assay Reference Genome Location: Chr.7:101391462 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 136227
• Gene Name: collagen type XXVI alpha 1
• Gene Aliases: EMI6, EMID2, EMU2, SH2B
• Location: Chr.7:101362369-101559024 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COL26A1	NM_001278563.2			NP_001265492.1
	NM_133457.4			NP_597714.2
	XM_017011743.1			XP_016867232.1
	XM_017011744.1			XP_016867233.1
	AJ416091.1			CAC94778.1
	BC109254.2			AAI09255.1
	BC110393.1
	BI549609.1
	CX163123.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1943e212	Chr.7:101322320 - 101498586 on Build GRCh38	Gain	COL26A1
nsv1030604	Chr.7:101074451 - 101580185 on Build GRCh38	Gain	PLOD3 MIR4653 TRIM56 LINC01007 LOC101927721 CLDN15 FIS1 NAT16 LOC101927746 COL26A1 VGF SERPINE1 IFT22 ZNHIT1 AP1S1 MOGAT3
nsv1023393	Chr.7:101261052 - 101458765 on Build GRCh38	Gain	LOC101927746 COL26A1 IFT22 LOC101927721
esv2752134	Chr.7:101156850 - 101498586 on Build GRCh38	Gain	PLOD3 MIR4653 LOC101927721 CLDN15 FIS1 NAT16 LOC101927746 COL26A1 VGF IFT22 ZNHIT1 AP1S1 MOGAT3
nsv1020524	Chr.7:101369721 - 101473041 on Build GRCh38	Gain	COL26A1
dgv6537n100	Chr.7:101318135 - 101512775 on Build GRCh38	Gain	LOC101927746 COL26A1 IFT22
esv2761351	Chr.7:101323817 - 101492117 on Build GRCh38	Gain	COL26A1
dgv236e55	Chr.7:101289049 - 101499978 on Build GRCh38	Gain	LOC101927746 COL26A1 IFT22 LOC101927721
nsv607981	Chr.7:101325082 - 101527747 on Build GRCh38	Gain	COL26A1
nsv517175	Chr.7:101317269 - 101495005 on Build GRCh38	Gain+Loss	LOC101927746 COL26A1 IFT22
nsv831077	Chr.7:101230928 - 101440649 on Build GRCh38	Loss	FIS1 LOC101927746 COL26A1 IFT22 LOC101927721 CLDN15

More Information

Additional Information:

For this assay, SNP(s) [rs77301400] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

positive regulation of cell-substrate adhesion
collagen catabolic process