Assay Details
Target Gene Details
Entrez Gene ID: | 23127 |
Gene Name: | collagen beta(1-O)galactosyltransferase 2 |
Gene Aliases: |
C1orf17, GLT25D2 |
Location: |
Chr.1:183929662-184051612 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 17 - Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COLGALT2 | NM_001303420.1 | NP_001290349.1 | ||
AK293973.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv525878 | Chr.1:183873970 - 183944406 on Build GRCh38 | Gain | RGL1 COLGALT2 |
nsv832026 | Chr.1:183815931 - 183992713 on Build GRCh38 | Gain+Loss | RGL1 COLGALT2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |