Assay Details
Target Gene Details
Entrez Gene ID: | 2590 |
Gene Name: | polypeptide N-acetylgalactosaminyltransferase 2 |
Gene Aliases: |
GalNAc-T2 |
Location: |
Chr.1:230057789-230282130 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GALNT2 | NM_001291866.1 | NP_001278795.1 | ||
NM_004481.4 | NP_004472.1 | |||
XM_017000963.1 | XP_016856452.1 | |||
XM_017000965.1 | XP_016856454.1 | |||
AK290048.1 | ||||
AK296886.1 | ||||
AK300453.1 | ||||
AK304029.1 | ||||
BC041120.1 | AAH41120.1 | |||
BG773173.1 | ||||
X85019.1 | CAA59381.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3589087 | Chr.1:230091282 - 230092669 on Build GRCh38 | Loss | GALNT2 |
nsv832814 | Chr.1:230003613 - 230199636 on Build GRCh38 | Gain | LOC101927532 GALNT2 |
esv3589083 | Chr.1:229939508 - 230186230 on Build GRCh38 | Gain | LOC101927532 GALNT2 |
esv2668920 | Chr.1:230091317 - 230092653 on Build GRCh38 | Deletion | GALNT2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |