Assay Details
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 Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CRYBB3 | NM_004076.4 | 6 | 690 | NP_004067.1 |
XM_011529902.2 | 6 | 1228 | XP_011528204.1 | |
XM_017028599.1 | 5 | 1085 | XP_016884088.1 | |
BC069479.1 | 6 | 660 | AAH69479.2 | |
BC102021.1 | 6 | 647 | AAI02022.1 | |
BC102022.1 | 6 | 647 | AAI02023.1 | |
BC107482.1 | 6 | 647 | AAI07483.1 | |
BF726163.1 | 2 | 198 | ||
CR456427.1 | 5 | 641 | CAG30313.1 |
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 IGLL3P CRYBB2 LRP5L LOC105372969 |
nsv834162 | Chr.22:25149393 - 25313043 on Build GRCh38 | Loss | KIAA1671 CRYBB3 CRYBB2 LOC105372969 |
dgv24e196 | Chr.22:25116284 - 25403903 on Build GRCh38 | Duplication | KIAA1671 CRYBB3 LOC100652901 IGLL3P CRYBB2 LRP5L LOC105372969 |
nsv9888 | Chr.22:25204810 - 25247101 on Build GRCh38 | Gain | CRYBB3 CRYBB2 |
esv2758829 | Chr.22:24970834 - 25650546 on Build GRCh38 | Gain+Loss | KIAA1671 CRYBB3 CRYBB2P1 LOC105372966 LOC100128531 LOC100652901 IGLL3P CRYBB2 LRP5L LOC105372969 GRK3 MIR6817 |
nsv428388 | Chr.22:25153850 - 25435228 on Build GRCh38 | Loss | KIAA1671 CRYBB3 LOC100652901 IGLL3P CRYBB2 LRP5L LOC105372969 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |