Assay Details
Target Gene Details
Entrez Gene ID: | 54677 |
Gene Name: | carnitine O-octanoyltransferase |
Gene Aliases: |
COT |
Location: |
Chr.7:87345635-87399796 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CROT | NM_001143935.1 | 3 | 290 | NP_001137407.1 |
NM_001243745.1 | 3 | 290 | NP_001230674.1 | |
NM_021151.3 | 3 | 290 | NP_066974.2 | |
XM_011516337.2 | 3 | 290 | XP_011514639.1 | |
XM_017012370.1 | 3 | 228 | XP_016867859.1 | |
AF073770.1 | 3 | 181 | AAD41654.1 | |
AF168793.1 | 3 | 181 | AAF03234.1 | |
AK127901.1 | 3 | 246 | ||
AK313487.1 | 3 | 234 | ||
BC039004.1 | 3 | 230 | AAH39004.1 | |
BC051874.1 | 3 | 232 | AAH51874.1 | |
DA518578.1 | 3 | 288 | ||
DA865171.1 | 3 | 290 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv464622 | Chr.7:87203287 - 87911933 on Build GRCh38 | Gain | DBF4 SLC25A40 TMEM243 ABCB1 RUNDC3B ABCB4 TP53TG1 CROT |
nsv428177 | Chr.7:87228237 - 87404851 on Build GRCh38 | Loss | ABCB4 TP53TG1 CROT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |