Hs04088482_cn

• Gene Symbol: CRYBB2
• Assay Reference Genome Location: Chr.22:25220031 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYBB2	NM_000496.2			NP_000487.1
	XM_006724141.3			XP_006724204.1
	XM_011529900.2			XP_011528202.1
	BF847403.1
	KR052782.1
	KR052783.1
	KR052784.1

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	LOC105372969 LRP5L CRYBB3 CRYBB2 LOC100652901 IGLL3P
nsv834162	Chr.22:25149393 - 25313043 on Build GRCh38	Loss	LOC105372969 KIAA1671 CRYBB3 CRYBB2
nsv9888	Chr.22:25204810 - 25247101 on Build GRCh38	Gain	CRYBB3 CRYBB2
dgv24e196	Chr.22:25116284 - 25403903 on Build GRCh38	Duplication	LOC105372969 LRP5L KIAA1671 CRYBB3 CRYBB2 LOC100652901 IGLL3P
esv2758829	Chr.22:24970834 - 25650546 on Build GRCh38	Gain+Loss	LOC105372969 LOC105372966 MIR6817 LRP5L KIAA1671 CRYBB3 CRYBB2 GRK3 LOC100128531 LOC100652901 CRYBB2P1 IGLL3P
dgv175e55	Chr.22:25211818 - 25567021 on Build GRCh38	Gain	LOC105372969 LOC105372966 MIR6817 LRP5L CRYBB2 GRK3 LOC100652901 CRYBB2P1 IGLL3P
nsv428388	Chr.22:25153850 - 25435228 on Build GRCh38	Loss	LOC105372969 LRP5L KIAA1671 CRYBB3 CRYBB2 LOC100652901 IGLL3P
nsv834163	Chr.22:25215681 - 25409132 on Build GRCh38	Gain+Loss	LOC105372969 LRP5L CRYBB2 LOC100652901 IGLL3P

More Information

Additional Information:

For this assay, SNP(s) [rs114907851] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-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