Assay Details
Target Gene Details
Entrez Gene ID: | 10317 |
Gene Name: | beta-1,3-galactosyltransferase 5 |
Gene Aliases: |
B3GalT-V, B3GalTx, B3T5, GLCT5, beta-1,3-GalTase 5, beta-3-Gx-T5, beta3Gal-T5 |
Location: |
Chr.21:39612940-39662889 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B3GALT5 | NM_001278650.1 | NP_001265579.1 | ||
XM_017028227.1 | 1 | 1070 | XP_016883716.1 | |
XM_017028228.1 | 1 | 1070 | XP_016883717.1 | |
XM_017028229.1 | 1 | 1070 | XP_016883718.1 | |
XM_017028230.1 | 1 | 1070 | XP_016883719.1 | |
XM_017028231.1 | 1 | 1070 | XP_016883720.1 | |
XM_017028232.1 | 1 | 1070 | XP_016883721.1 | |
XM_017028233.1 | XP_016883722.1 | |||
XM_017028234.1 | XP_016883723.1 | |||
XM_017028235.1 | XP_016883724.1 | |||
XM_017028236.1 | XP_016883725.1 | |||
XM_017028237.1 | XP_016883726.1 | |||
XM_017028238.1 | 1 | 1070 | XP_016883727.1 | |
XM_017028239.1 | 1 | 1070 | XP_016883728.1 | |
XM_017028240.1 | 1 | 1070 | XP_016883729.1 | |
XM_017028241.1 | XP_016883730.1 | |||
AK292951.1 | ||||
AY372061.1 | AAR08910.1 | |||
DQ645732.1 | ||||
DQ645733.1 | ||||
DQ645734.1 | ||||
DQ645735.1 | ||||
DQ645736.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv587485 | Chr.21:39628426 - 39656270 on Build GRCh38 | Loss | B3GALT5 |
nsv1061454 | Chr.21:39386047 - 39893479 on Build GRCh38 | Gain | LCA5L SH3BGR MIR6508 PCP4 IGSF5 B3GALT5 WRB WRB-SH3BGR B3GALT5-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |