Assay Details
Target Gene Details
Entrez Gene ID: | 1384 |
Gene Name: | carnitine O-acetyltransferase |
Gene Aliases: |
CAT1 |
Location: |
Chr.9:129094794-129110791 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CRAT | NM_000755.3 | 14 | 2047 | NP_000746.2 |
NM_001257363.1 | 15 | 2146 | NP_001244292.1 | |
XM_005251708.3 | 16 | 2209 | XP_005251765.1 | |
XM_017014274.1 | 15 | 2214 | XP_016869763.1 | |
XM_017014275.1 | 14 | 1867 | XP_016869764.1 | |
AK313931.1 | 15 | 2058 | ||
BC000723.2 | 13 | 1740 | AAH00723.1 | |
BT006801.1 | 13 | 1519 | AAP35447.1 | |
X78706.1 | 14 | 1760 | CAA55359.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv818725 | Chr.9:129026890 - 129176634 on Build GRCh38 | Gain | PTPA IER5L SH3GLB2 DOLPP1 MIGA2 CRAT |
nsv831729 | Chr.9:128973042 - 129158330 on Build GRCh38 | Loss | NUP188 PTPA SH3GLB2 DOLPP1 MIGA2 CRAT |
nsv509323 | Chr.9:128991062 - 129129399 on Build GRCh38 | Insertion | NUP188 PTPA SH3GLB2 DOLPP1 MIGA2 CRAT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |