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 Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GALNT3 | NM_004482.3 | NP_004473.2 | ||
XM_005246449.1 | XP_005246506.1 | |||
XM_011510929.1 | XP_011509231.1 | |||
XM_017003770.1 | XP_016859259.1 | |||
AK307391.1 | ||||
AK313389.1 | ||||
BC056246.1 | AAH56246.1 | |||
BC113565.1 | ||||
BC113567.1 | ||||
X92689.1 | CAA63371.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv583583 | Chr.2:165662006 - 165802076 on Build GRCh38 | Gain | CSRNP3 GALNT3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |