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: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COLGALT2 | NM_001303420.1 | NP_001290349.1 | ||
NM_001303421.1 | 12 | 3741 | NP_001290350.1 | |
NM_015101.3 | 12 | 4227 | NP_055916.1 | |
XM_011509332.2 | 13 | 4033 | XP_011507634.1 | |
AB011156.1 | 12 | 4152 | ||
AF288389.1 | 12 | 4186 | AAG60609.1 | |
AK127287.1 | 4 | 3732 | ||
AK293973.1 | ||||
BC019709.1 | 1 | 315 | AAH19709.1 |
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 Exonic DGV Variation |