Assay Details
Target Gene Details
Entrez Gene ID: | 1376 |
Gene Name: | carnitine palmitoyltransferase 2 |
Gene Aliases: |
CPT1, CPTASE, IIAE4 |
Location: |
Chr.1:53196429-53214197 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CPT2 | NM_000098.2 | 5 | 2924 | NP_000089.1 |
| XM_005270484.1 | 5 | 2523 | XP_005270541.1 | |
| BU629852.1 | 1 | 187 | ||
| U09648.1 | 5 | 2925 | AAB60383.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv829871 | Chr.1:53200871 - 53383048 on Build GRCh38 | Loss |
|
| esv2422213 | Chr.1:53179891 - 53258767 on Build GRCh38 | Duplication |
|
| nsv1001535 | Chr.1:52620368 - 53346539 on Build GRCh38 | Gain |
|
More Information
Set Membership: |
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Genomic Map