Hs00427784_cn

• Gene Symbol: BBS1
• Assay Reference Genome Location: Chr.11:66526211 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 582
• Gene Name: Bardet-Biedl syndrome 1
• Gene Aliases: BBS2L2
• Location: Chr.11:66510648-66533613 on Build GRCh38
• Assay Gene Location: Overlaps Exon 12 - Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBS1	NM_024649.4			NP_078925.3
	AF503941.1			AAM92770.1
	AK095638.1
	AK294962.1
	AK296311.1
	BC047642.1			AAH47642.1
	BC109064.2			AAI09065.1
	BC109065.1			AAI09066.1
	BX647612.1			CAI46060.1

Target Gene Details

• Entrez Gene ID: 254359
• Gene Name: zinc finger DHHC-type containing 24
• Gene Aliases: -
• Location: Chr.11:66520625-66546200 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZDHHC24	XM_005273874.3			XP_005273931.1
	AK310561.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522277	Chr.11:66466552 - 66726354 on Build GRCh38	Loss	CCDC87 SPTBN2 ACTN3 PELI3 CTSF ZDHHC24 BBS1 LOC101928069 RBM14 CCS RBM14-RBM4 RBM4B DPP3 RBM4

More Information

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

Gene Ontology Categories:

Process(es)

retina homeostasis
visual perception
nonmotile primary cilium assembly
cilium assembly
Golgi to plasma membrane protein transport
photoreceptor cell maintenance
response to stimulus
protein localization to cilium

Function(s)

RNA polymerase II repressing transcription factor binding
patched binding
smoothened binding
protein binding
zinc ion binding
protein-cysteine S-palmitoyltransferase activity