Hs04087728_cn

• Gene Symbol: CRYBB2
• Assay Reference Genome Location: Chr.22:25212417 on build GRCh38
• Cytoband: 22q11.23

Target Gene Details

• Entrez Gene ID: 1415
• Gene Name: crystallin beta B2
• Gene Aliases: CCA2, CRYB2, CRYB2A, CTRCT3, D22S665
• Location: Chr.22:25211660-25231869 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYBB2	XM_006724141.3	1	758	XP_006724204.1
	XM_011529900.2	1	758	XP_011528202.1

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 LOC100652901 LOC105372969 LRP5L CRYBB2 IGLL3P
nsv834162	Chr.22:25149393 - 25313043 on Build GRCh38	Loss	CRYBB3 KIAA1671 LOC105372969 CRYBB2
nsv9888	Chr.22:25204810 - 25247101 on Build GRCh38	Gain	CRYBB3 CRYBB2
dgv24e196	Chr.22:25116284 - 25403903 on Build GRCh38	Duplication	CRYBB3 KIAA1671 LOC100652901 LOC105372969 LRP5L CRYBB2 IGLL3P
esv2758829	Chr.22:24970834 - 25650546 on Build GRCh38	Gain+Loss	LOC100128531 CRYBB3 KIAA1671 CRYBB2P1 LOC100652901 LOC105372969 LOC105372966 LRP5L MIR6817 CRYBB2 IGLL3P GRK3
dgv175e55	Chr.22:25211818 - 25567021 on Build GRCh38	Gain	CRYBB2P1 LOC100652901 LOC105372969 LOC105372966 LRP5L MIR6817 CRYBB2 IGLL3P GRK3
nsv428388	Chr.22:25153850 - 25435228 on Build GRCh38	Loss	CRYBB3 KIAA1671 LOC100652901 LOC105372969 LRP5L CRYBB2 IGLL3P

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

visual perception
camera-type eye development
response to stimulus

Function(s)

structural molecule activity
structural constituent of eye lens
identical protein binding
protein homodimerization activity