Name: [Hs00071614_cn] [CRYBB2]
Creator: Thermo Fisher Scientific
Keywords: [CRYBB2] Assay, [crystallin beta B2] Assay

Assay Details

Target Gene Details

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYBB2	NM_000496.2	3	183	NP_000487.1
	XM_006724141.3	3	1342	XP_006724204.1
	XM_011529900.2	4	1707	XP_011528202.1
	BC069535.1	2	147	AAH69535.1
	BF847403.1
	CR456426.1	2	145	CAG30312.1
	KR052782.1	3	177
	KR052783.1	3	177
	KR052784.1	3	179
	KR052788.1	2	135
	KR052789.1	2	126
	KR052790.1	2	168
	KR052791.1	1	83
	L10035.1	2	147	AAA16864.1

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 IGLL3P LOC105372969 CRYBB2 LRP5L
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 LOC100652901 IGLL3P KIAA1671 LOC105372969 CRYBB2 LRP5L
esv2758829	Chr.22:24970834 - 25650546 on Build GRCh38	Gain+Loss	CRYBB3 MIR6817 LOC100652901 LOC100128531 IGLL3P KIAA1671 LOC105372969 CRYBB2P1 CRYBB2 LOC105372966 LRP5L GRK3
dgv175e55	Chr.22:25211818 - 25567021 on Build GRCh38	Gain	MIR6817 LOC100652901 IGLL3P LOC105372969 CRYBB2P1 CRYBB2 LOC105372966 LRP5L GRK3
esv23681	Chr.22:25223067 - 25533023 on Build GRCh38	Gain+Loss	MIR6817 LOC100652901 IGLL3P LOC105372969 CRYBB2P1 CRYBB2 LOC105372966 LRP5L
nsv428388	Chr.22:25153850 - 25435228 on Build GRCh38	Loss	CRYBB3 LOC100652901 IGLL3P KIAA1671 LOC105372969 CRYBB2 LRP5L
nsv834163	Chr.22:25215681 - 25409132 on Build GRCh38	Gain+Loss	LOC100652901 IGLL3P LOC105372969 CRYBB2 LRP5L

Intragenic

Exonic

DGV Variation

Function(s) Process(es)