Assay Details
Target Gene Details
Entrez Gene ID: | 2762 |
Gene Name: | GDP-mannose 4,6-dehydratase |
Gene Aliases: |
GMD, SDR3E1 |
Location: |
Chr.6:1623800-2245634 on Build GRCh38 |
Assay Gene Location: | Within Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GMDS | NM_001253846.1 | 11 | 1287 | NP_001240775.1 |
NM_001500.3 | 11 | 1541 | NP_001491.1 | |
XM_011514500.1 | 11 | 1254 | XP_011512802.1 | |
XM_017010752.1 | 8 | 1770 | XP_016866241.1 | |
AF040260.1 | 11 | 1287 | AAC24501.1 | |
AF042377.1 | 11 | 1404 | AAC13553.1 | |
AI761361.1 | 1 | 162 | ||
AK057484.1 | 6 | 1591 | ||
BC000117.1 | 11 | 1506 | AAH00117.1 | |
BM665440.1 | 1 | 175 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv992n67 | Chr.6:1589856 - 1629286 on Build GRCh38 | Gain | FOXCUT FOXC1 GMDS |
nsv1016859 | Chr.6:1459785 - 1645585 on Build GRCh38 | Gain | FOXCUT FOXC1 GMDS |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |