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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LPCAT3 | NM_005768.5 | 10 | 1217 | NP_005759.4 |
AK058063.1 | 4 | 499 | ||
AK096775.1 | 10 | 1406 | ||
AK296145.1 | 9 | 927 | ||
AK296171.1 | ||||
AK311727.1 | ||||
AK315538.1 | 8 | 789 | ||
BC000664.2 | 9 | 952 | AAH00664.2 | |
BC065194.1 | 10 | 1148 | AAH65194.1 | |
BT007000.1 | 8 | 785 | AAP35646.1 | |
BX647983.1 | 9 | 1752 | ||
BX648009.1 | 10 | 1188 | ||
U72515.1 | 9 | 902 | AAC51640.1 |
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 | PHB2 MIR200C LOC105369635 LPCAT3 RNU7-1 EMG1 SCARNA12 PTPN6 LRRC23 C12orf57 ATN1 MIR141 ENO2 |
nsv509453 | Chr.12:6896530 - 7007852 on Build GRCh38 | Insertion | PHB2 MIR200C LOC105369635 LPCAT3 RNU7-1 EMG1 SCARNA12 PTPN6 LRRC23 C12orf57 ATN1 MIR141 ENO2 |
nsv1035811 | Chr.12:6876316 - 6994911 on Build GRCh38 | Gain | PHB2 RPL13P5 MIR200C LOC105369635 LPCAT3 RNU7-1 EMG1 DSTNP2 SCARNA12 PTPN6 LRRC23 C12orf57 ATN1 MIR141 LOC105369632 ENO2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |