Assay Details
Target Gene Details
Entrez Gene ID: | 10436 |
Gene Name: | EMG1, N1-specific pseudouridine methyltransferase |
Gene Aliases: |
C2F, Grcc2f, NEP1 |
Location: |
Chr.12:6970781-6997428 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EMG1 | NR_135131.1 | |||
AK298745.1 |
Target Gene Details
Entrez Gene ID: | 10162 |
Gene Name: | lysophosphatidylcholine acyltransferase 3 |
Gene Aliases: |
C3F, LPCAT, LPLAT 5, LPSAT, MBOAT5, OACT5, nessy |
Location: |
Chr.12:6976185-7018538 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LPCAT3 | NM_005768.5 | 9 | 1042 | NP_005759.4 |
AK058063.1 | 3 | 324 | ||
AK096775.1 | 9 | 1231 | ||
AK296145.1 | 8 | 752 | ||
AK296164.1 | 8 | 799 | ||
AK296171.1 | 8 | 940 | ||
AK311727.1 | 7 | 764 | ||
AK315538.1 | 7 | 614 | ||
BC000664.2 | 8 | 777 | AAH00664.2 | |
BC065194.1 | 9 | 973 | AAH65194.1 | |
BT007000.1 | 7 | 610 | AAP35646.1 | |
BX647983.1 | 9 | 982 | ||
BX648009.1 | 9 | 1013 | ||
U72515.1 | 8 | 727 | AAC51640.1 | |
U72517.1 | 2 | 723 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1047373 | Chr.12:6902891 - 7055754 on Build GRCh38 | Gain | MIR200C ENO2 RNU7-1 C12orf57 LPCAT3 MIR141 LRRC23 PHB2 ATN1 PTPN6 EMG1 LOC105369635 SCARNA12 |
nsv509453 | Chr.12:6896530 - 7007852 on Build GRCh38 | Insertion | MIR200C ENO2 RNU7-1 C12orf57 LPCAT3 MIR141 LRRC23 PHB2 ATN1 PTPN6 EMG1 LOC105369635 SCARNA12 |
nsv1035811 | Chr.12:6876316 - 6994911 on Build GRCh38 | Gain | MIR200C ENO2 LOC105369632 RNU7-1 C12orf57 LPCAT3 MIR141 LRRC23 PHB2 ATN1 PTPN6 EMG1 LOC105369635 DSTNP2 RPL13P5 SCARNA12 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |