Hs04046860_cn

• Gene Symbol: TGM6
• Assay Reference Genome Location: Chr.20:2387504 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 343641
• Gene Name: transglutaminase 6
• Gene Aliases: SCA35, TG6, TGM3L, TGY, dJ734P14.3
• Location: Chr.20:2380908-2432753 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TGM6	NM_001254734.1			NP_001241663.1
	NM_198994.2			NP_945345.2
	AF540969.1			AAQ10751.1
	AF540970.1			AAQ10752.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470535	Chr.20:1948896 - 2780594 on Build GRCh38	Gain	MIR1292 TGM6 SNORD57 SNORA51 SNRPB SNORD110 TGM3 IDH3B SNORD56 LOC727993 SNORD119 TMC2 LOC388780 ZNF343 EBF4 PDYN SNORD86 STK35 NOP56
nsv585263	Chr.20:2224165 - 2391136 on Build GRCh38	Gain	TGM6 LOC388780 TGM3
esv3644998	Chr.20:2148722 - 2690694 on Build GRCh38	Gain	MIR1292 TGM6 SNORD57 SNORA51 SNRPB SNORD110 TGM3 IDH3B SNORD56 SNORD119 TMC2 LOC388780 ZNF343 SNORD86 NOP56
esv2758778	Chr.20:2149914 - 2494823 on Build GRCh38	Gain	TGM6 SNORD119 LOC388780 SNRPB ZNF343 TGM3

More Information

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

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

peptide cross-linking

Function(s)

protein-glutamine gamma-glutamyltransferase activity
metal ion binding