Assay Details
Target Gene Details
Entrez Gene ID: | 226 |
Gene Name: | aldolase, fructose-bisphosphate A |
Gene Aliases: |
ALDA, GSD12, HEL-S-87p |
Location: |
Chr.16:30053090-30070420 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALDOA | NM_000034.3 | 5 | 542 | NP_000025.1 |
XM_011545768.2 | 2 | 405 | XP_011544070.1 | |
AK098778.1 | 3 | 583 | ||
AK308495.1 | 5 | 461 | ||
AK308748.1 | 4 | 354 | ||
BC004333.1 | 5 | 462 | AAH04333.1 | |
DB057572.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833187 | Chr.16:30051939 - 30173160 on Build GRCh38 | Loss | LOC101928595 FAM57B TBX6 PPP4C MAPK3 ALDOA YPEL3 GDPD3 |
nsv1160384 | Chr.16:30023148 - 30178660 on Build GRCh38 | Duplication | LOC101928595 FAM57B TBX6 PPP4C MAPK3 ALDOA YPEL3 DOC2A C16orf92 GDPD3 |
esv2758642 | Chr.16:30062634 - 30371959 on Build GRCh38 | Gain | TBC1D10B MYLPF TBX6 PPP4C CORO1A MAPK3 ALDOA LOC107983970 YPEL3 SLX1A-SULT1A3 LOC613037 GDPD3 CD2BP2 LOC101928595 BOLA2B SMG1P5 SULT1A3 LOC613038 SLX1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |