Hs00693347_cn

• Gene Symbol: TTC8
• Assay Reference Genome Location: Chr.14:88824659 on build GRCh38
• Cytoband: 14q31.3

Target Gene Details

• Entrez Gene ID: 123016
• Gene Name: tetratricopeptide repeat domain 8
• Gene Aliases: BBS8, RP51
• Location: Chr.14:88824153-88877996 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTC8	NM_001288781.1	2	148	NP_001275710.1
	NM_001288782.1	2	148	NP_001275711.1
	NM_001288783.1	2	148	NP_001275712.1
	NM_144596.3	2	148	NP_653197.2
	NM_198309.3	2	148	NP_938051.1
	NM_198310.3	2	148	NP_938052.1
	XM_006720035.1	1	430	XP_006720098.1
	XM_006720037.2	1	430	XP_006720100.1
	XM_011536432.1	1	430	XP_011534734.1
	XM_011536433.1	1	430	XP_011534735.1
	XM_011536434.1	1	430	XP_011534736.1
	XM_017020977.1	1	430	XP_016876466.1
	XM_017020978.1	1	430	XP_016876467.1
	AK093891.1
	AK124675.1
	AK296077.1
	AK315772.1
	AL833901.1			CAD38757.2
	AY366523.1			AAR02192.1
	AY366524.1			AAR02193.1
	AY373972.1			AAR19043.1
	BC026351.1			AAH26351.1
	BC095433.1			AAH95433.1
	BX161472.1			CAD61928.1
	BX247959.1	2	148	CAD62299.1
	BX248071.1			CAD62360.1
	KU178849.1
	KU178850.1
	KU178851.1
	KU178852.1
	KU178853.1
	KU178854.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832850	Chr.14:88814253 - 88871220 on Build GRCh38	Gain+Loss	TTC8
dgv1955n100	Chr.14:88712120 - 88999575 on Build GRCh38	Gain	EML5 TTC8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein transport
cilium assembly
establishment of anatomical structure orientation
sensory processing

Function(s)

RNA polymerase II repressing transcription factor binding
protein binding