Assay Details
Target Gene Details
Entrez Gene ID: | 54988 |
Gene Name: | acyl-CoA synthetase medium-chain family member 5 |
Gene Aliases: |
- |
Location: |
Chr.16:20409508-20441333 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACSM5 | NM_001324371.1 | 3 | 393 | NP_001311300.1 |
NM_001324372.1 | 3 | 397 | NP_001311301.1 | |
NM_001324373.1 | 3 | 397 | NP_001311302.1 | |
NM_017888.2 | 3 | 397 | NP_060358.2 | |
XM_006721056.3 | 3 | 419 | XP_006721119.1 | |
AK000588.1 | 3 | 394 | BAA91273.1 | |
BC013753.1 | 3 | 385 | AAH13753.1 | |
BC016703.1 | 3 | 401 | AAH16703.1 | |
BC068516.1 | 3 | 397 | AAH68516.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1047399 | Chr.16:20378305 - 20522307 on Build GRCh38 | Gain | PDILT ACSM2A ACSM5 |
nsv984287 | Chr.16:20409387 - 20492193 on Build GRCh38 | Duplication | ACSM2A ACSM5 |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | PDILT ACSM2A ACSM5 UMOD |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | LOC102723385 TMC5 ITPRIPL2 ACSM3 CRYM-AS1 COQ7 TMC7 SMG1P3 SYT17 UMOD GPR139 IQCK LYRM1 DNAH3 CLEC19A TMEM159 C16orf62 PDILT ZP2 CRYM GPRC5B GP2 DCUN1D3 ANKS4B ACSM1 ACSM2B NPIPB3 CCP110 LOC81691 SNX29P1 ACSM2A ERI2 ACSM5 LOC100190986 THUMPD1 GDE1 KNOP1 |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | PDILT ACSM2A ACSM5 UMOD |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |