Hs01875173_cn

• Gene Symbol: TTC30A
• Assay Reference Genome Location: Chr.2:177616507 on build GRCh38
• Cytoband: 2q31.2

Target Gene Details

• Entrez Gene ID: 92104
• Gene Name: tetratricopeptide repeat domain 30A
• Gene Aliases: IFT70A
• Location: Chr.2:177614298-177618966 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTC30A	NM_152275.3	1	2460	NP_689488.3
	AK057530.1	2	2097
	AK125104.1	2	2164
	AK292395.1	1	2444
	AL049329.1	1	561	CAB43676.2
	BC042848.1	1	2464	AAH42848.1
	BC048006.1	1	2234

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv583689	Chr.2:177603280 - 177645092 on Build GRCh38	Loss	TTC30A PDE11A
nsv583688	Chr.2:177562912 - 177675565 on Build GRCh38	Loss	LOC105373764 TTC30A PDE11A
esv2762964	Chr.2:177551666 - 177617090 on Build GRCh38	Loss	TTC30B TTC30A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

intraciliary transport
cilium assembly