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 8 |
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 Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LPCAT3 | NM_005768.5 | NP_005759.4 | ||
AK096775.1 | ||||
AK296145.1 | ||||
AK296164.1 | ||||
AK296171.1 | ||||
AK311727.1 | ||||
AU125262.1 | ||||
BC065194.1 | AAH65194.1 | |||
BX647983.1 | ||||
BX648009.1 |
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 | MIR141 SCARNA12 LRRC23 ATN1 PHB2 C12orf57 LOC105369635 MIR200C LPCAT3 PTPN6 EMG1 RNU7-1 ENO2 |
nsv1039509 | Chr.12:6978884 - 7058255 on Build GRCh38 | Gain | LPCAT3 EMG1 |
nsv509453 | Chr.12:6896530 - 7007852 on Build GRCh38 | Insertion | MIR141 SCARNA12 LRRC23 ATN1 PHB2 C12orf57 LOC105369635 MIR200C LPCAT3 PTPN6 EMG1 RNU7-1 ENO2 |
nsv1035811 | Chr.12:6876316 - 6994911 on Build GRCh38 | Gain | MIR141 SCARNA12 DSTNP2 LRRC23 LOC105369632 ATN1 RPL13P5 PHB2 C12orf57 LOC105369635 MIR200C LPCAT3 PTPN6 EMG1 RNU7-1 ENO2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |