Assay Details
Target Gene Details
Entrez Gene ID: | 124872 |
Gene Name: | beta-1,4-N-acetyl-galactosaminyltransferase 2 |
Gene Aliases: |
B4GALT, GALGT2 |
Location: |
Chr.17:49120347-49170722 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B4GALNT2 | NM_001159387.1 | 3 | 301 | NP_001152859.1 |
NM_001159388.1 | 3 | 314 | NP_001152860.1 | |
NM_153446.2 | 3 | 516 | NP_703147.2 | |
XM_011524314.2 | 3 | 669 | XP_011522616.1 | |
XM_017024173.1 | 3 | 363 | XP_016879662.1 | |
AF510036.1 | 3 | 516 | AAM34756.1 | |
AJ517770.1 | 3 | 516 | CAD57148.1 | |
AJ517771.1 | 3 | 298 | CAD57149.1 | |
AK302876.1 | 3 | 314 | ||
BC113675.1 | 3 | 510 | ||
BC113677.1 | 3 | 510 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1065769 | Chr.17:49091661 - 49191783 on Build GRCh38 | Gain | B4GALNT2 |
nsv1065020 | Chr.17:49130326 - 49149675 on Build GRCh38 | Loss | B4GALNT2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |