Assay Details
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: | Overlaps Intron 2 - Exon 3 |
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 | |||
BC069535.1 | AAH69535.1 | |||
BF847403.1 | ||||
CR456426.1 | CAG30312.1 | |||
KR052782.1 | ||||
KR052783.1 | ||||
KR052784.1 | ||||
KR052788.1 | ||||
KR052790.1 | ||||
L10035.1 | AAA16864.1 |
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 | CRYBB2 LOC105372969 LOC100652901 CRYBB3 IGLL3P LRP5L |
nsv834162 | Chr.22:25149393 - 25313043 on Build GRCh38 | Loss | CRYBB2 LOC105372969 CRYBB3 KIAA1671 |
nsv9888 | Chr.22:25204810 - 25247101 on Build GRCh38 | Gain | CRYBB2 CRYBB3 |
dgv24e196 | Chr.22:25116284 - 25403903 on Build GRCh38 | Duplication | CRYBB2 LOC105372969 LOC100652901 CRYBB3 KIAA1671 IGLL3P LRP5L |
esv2758829 | Chr.22:24970834 - 25650546 on Build GRCh38 | Gain+Loss | LOC105372966 CRYBB2 LOC105372969 LOC100652901 CRYBB3 MIR6817 GRK3 KIAA1671 IGLL3P CRYBB2P1 LRP5L LOC100128531 |
dgv175e55 | Chr.22:25211818 - 25567021 on Build GRCh38 | Gain | LOC105372966 CRYBB2 LOC105372969 LOC100652901 MIR6817 GRK3 IGLL3P CRYBB2P1 LRP5L |
nsv428388 | Chr.22:25153850 - 25435228 on Build GRCh38 | Loss | CRYBB2 LOC105372969 LOC100652901 CRYBB3 KIAA1671 IGLL3P LRP5L |
nsv834163 | Chr.22:25215681 - 25409132 on Build GRCh38 | Gain+Loss | CRYBB2 LOC105372969 LOC100652901 IGLL3P LRP5L |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |