Hs00228076_cn

• Gene Symbol: TTR
• Assay Reference Genome Location: Chr.18:31591953 on build GRCh38
• Cytoband: 18q12.1

Target Gene Details

• Entrez Gene ID: 7276
• Gene Name: transthyretin
• Gene Aliases: CTS, CTS1, HEL111, HsT2651, PALB, TBPA
• Location: Chr.18:31591767-31599024 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTR	NM_000371.3			NP_000362.1
	AF162690.1			AAD45014.1
	AK312051.1
	BC005310.1			AAH05310.1
	BC020791.1			AAH20791.1
	BT007189.1			AAP35853.1
	CR456908.1			CAG33189.1
	D00096.1			BAA00059.1
	DB498675.1
	DQ839490.1
	EU794670.1
	GU727633.1
	K02091.1			AAA60011.1
	M10605.1			AAA60012.1
	U19780.1			AAA73473.1
	X59498.1			CAA42087.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv576636	Chr.18:31566859 - 31610211 on Build GRCh38	Loss	TTR
nsv1066881	Chr.18:31569789 - 31600877 on Build GRCh38	Gain	TTR
nsv833615	Chr.18:31428433 - 31613013 on Build GRCh38	Gain	DSG3 DSG2-AS1 TTR DSG2

More Information

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

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

retinoid metabolic process
purine nucleobase metabolic process
transport
extracellular matrix organization
retinol metabolic process
cellular protein metabolic process

Function(s)

hormone activity
protein binding
identical protein binding
protein heterodimerization activity
thyroid hormone binding