Hs00033478_cn

• Gene Symbol: CRYBB3
• Assay Reference Genome Location: Chr.22:25207308 on build GRCh38
• Cytoband: 22q11.23

Target Gene Details

• Entrez Gene ID: 1417
• Gene Name: crystallin beta B3
• Gene Aliases: CATCN2, CRYB3, CTRCT22
• Location: Chr.22:25199312-25207617 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYBB3	NM_004076.4	6	812	NP_004067.1
	XM_011529902.2	6	1350	XP_011528204.1
	XM_017028599.1	5	1207	XP_016884088.1
	BC069479.1			AAH69479.2
	BC102021.1	6	769	AAI02022.1
	BC102022.1	6	769	AAI02023.1
	BC107482.1	6	769	AAI07483.1
	BF726163.1	2	320

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469659	Chr.22:25202943 - 25366882 on Build GRCh38	Gain+Loss	CRYBB3 LRP5L LOC105372969 IGLL3P CRYBB2 LOC100652901
nsv834162	Chr.22:25149393 - 25313043 on Build GRCh38	Loss	CRYBB3 LOC105372969 KIAA1671 CRYBB2
dgv24e196	Chr.22:25116284 - 25403903 on Build GRCh38	Duplication	CRYBB3 LRP5L LOC105372969 KIAA1671 IGLL3P CRYBB2 LOC100652901
nsv9888	Chr.22:25204810 - 25247101 on Build GRCh38	Gain	CRYBB3 CRYBB2
esv2758829	Chr.22:24970834 - 25650546 on Build GRCh38	Gain+Loss	LOC105372966 CRYBB3 GRK3 MIR6817 LRP5L LOC105372969 KIAA1671 IGLL3P CRYBB2 CRYBB2P1 LOC100128531 LOC100652901
nsv428388	Chr.22:25153850 - 25435228 on Build GRCh38	Loss	CRYBB3 LRP5L LOC105372969 KIAA1671 IGLL3P CRYBB2 LOC100652901

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

visual perception

Function(s)

structural constituent of eye lens
protein binding