Hs07226261_cn

• Gene Symbol: CRYBB3
• Assay Reference Genome Location: Chr.22:25203603 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 Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYBB3	NM_004076.4			NP_004067.1
	XM_011529902.2			XP_011528204.1
	XM_017028599.1			XP_016884088.1
	BC069479.1			AAH69479.2
	BC102021.1			AAI02022.1
	BC102022.1			AAI02023.1
	BC107482.1			AAI07483.1
	BM711382.1
	CR456427.1			CAG30313.1
	U71216.1			AAC50972.1

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

More Information

Additional Information:

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

Gene Ontology Categories:

Process(es)

visual perception

Function(s)

structural constituent of eye lens
protein binding