Assay Details
Target Gene Details
Entrez Gene ID: | 2591 |
Gene Name: | polypeptide N-acetylgalactosaminyltransferase 3 |
Gene Aliases: |
GalNAc-T3, HFTC, HHS |
Location: |
Chr.2:165747803-165796352 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GALNT3 | NM_004482.3 | 11 | 2509 | NP_004473.2 |
XM_005246449.1 | 11 | 2657 | XP_005246506.1 | |
XM_011510929.1 | 11 | 2392 | XP_011509231.1 | |
XM_017003770.1 | 11 | 4258 | XP_016859259.1 | |
BU567493.1 | 1 | 237 | ||
BX647473.1 | 8 | 1349 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv1180e212 | Chr.2:165730779 - 165750483 on Build GRCh38 | Loss | GALNT3 |
nsv583583 | Chr.2:165662006 - 165802076 on Build GRCh38 | Gain | GALNT3 CSRNP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |