Hs04048453_cn

• Gene Symbol: TGM6
• Assay Reference Genome Location: Chr.20:2381332 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
nsv828671	Chr.20:2225538 - 2383922 on Build GRCh38	Gain	TGM3 LOC388780 TGM6
nsv470535	Chr.20:1948896 - 2780594 on Build GRCh38	Gain	PDYN IDH3B LOC727993 STK35 SNORD57 LOC388780 MIR1292 ZNF343 EBF4 TGM6 TMC2 TGM3 SNORD56 SNORD110 SNORA51 SNORD119 SNORD86 SNRPB NOP56
nsv9781	Chr.20:2224399 - 2385324 on Build GRCh38	Gain+Loss	TGM3 LOC388780 TGM6
nsv585263	Chr.20:2224165 - 2391136 on Build GRCh38	Gain	TGM3 LOC388780 TGM6
esv3644998	Chr.20:2148722 - 2690694 on Build GRCh38	Gain	IDH3B SNORD57 LOC388780 MIR1292 ZNF343 TGM6 TMC2 TGM3 SNORD56 SNORD110 SNORA51 SNORD119 SNORD86 SNRPB NOP56
esv34630	Chr.20:2244835 - 2383744 on Build GRCh38	Gain	TGM3 TGM6
nsv585264	Chr.20:2270973 - 2386563 on Build GRCh38	Loss	TGM3 TGM6
esv2758778	Chr.20:2149914 - 2494823 on Build GRCh38	Gain	TGM3 SNORD119 LOC388780 SNRPB ZNF343 TGM6

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