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 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALDOA | NM_000034.3 | 8 | 1302 | NP_000025.1 |
NM_001127617.2 | 3 | 524 | NP_001121089.1 | |
NM_001243177.1 | 4 | 645 | NP_001230106.1 | |
NM_184041.2 | 3 | 491 | NP_908930.1 | |
NM_184043.2 | 3 | 463 | NP_908932.1 | |
XM_011545768.2 | 5 | 1165 | XP_011544070.1 | |
AK026577.1 | 3 | 341 | ||
AK098778.1 | 6 | 1343 | ||
AK301993.1 | 4 | 457 | ||
BC004333.1 | 8 | 1222 | AAH04333.1 | |
BC010660.1 | 3 | 409 | AAH10660.1 | |
BC012880.1 | 3 | 337 | AAH12880.1 | |
BC013614.1 | 3 | 420 | AAH13614.1 | |
BC015888.2 | 3 | 333 | AAH15888.1 | |
BC016800.1 | 4 | 361 | AAH16800.1 | |
BE893518.1 | 3 | 466 | ||
BQ719865.1 | 3 | 452 | ||
BX647566.1 | 3 | 313 | ||
CB151262.1 | 3 | 462 | ||
CR536528.1 | 2 | 215 | CAG38765.1 | |
CR541880.1 | 2 | 215 | CAG46678.1 | |
DA138954.1 | 3 | 491 | ||
DA564075.1 | 3 | 461 | ||
DA893541.1 | 3 | 371 | ||
DA899482.1 | 3 | 524 | ||
FJ474908.1 | 4 | 382 | ||
M11560.1 | 4 | 382 | AAA51690.1 | |
X05236.1 | 3 | 361 | CAA28861.1 |
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 | PPP4C LOC101928595 TBX6 ALDOA YPEL3 GDPD3 MAPK3 FAM57B |
nsv1160384 | Chr.16:30023148 - 30178660 on Build GRCh38 | Duplication | PPP4C LOC101928595 TBX6 DOC2A ALDOA C16orf92 YPEL3 GDPD3 MAPK3 FAM57B |
esv2758642 | Chr.16:30062634 - 30371959 on Build GRCh38 | Gain | SLX1A-SULT1A3 LOC107983970 LOC613037 SLX1A PPP4C BOLA2B LOC613038 SULT1A3 TBC1D10B MAPK3 CD2BP2 LOC101928595 MYLPF SMG1P5 TBX6 ALDOA CORO1A YPEL3 GDPD3 |
More Information
Additional Information:
Set Membership: |
Intragenic Exonic DGV Variation Validated |