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: | Overlaps Intron 5 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EMG1 | NM_001320049.1 | NP_001306978.1 | ||
NM_006331.7 | NP_006322.4 | |||
NR_135131.1 | ||||
AI394112.1 | ||||
AK291597.1 | ||||
AK298745.1 | ||||
AK307177.1 | 3 | 397 | ||
BC055314.1 | AAH55314.1 | |||
BP315329.1 | ||||
BQ015307.1 | ||||
U72514.1 | AAC51641.1 |
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 | PTPN6 LRRC23 LOC105369635 LPCAT3 MIR141 SCARNA12 RNU7-1 PHB2 ENO2 MIR200C C12orf57 ATN1 EMG1 |
nsv509453 | Chr.12:6896530 - 7007852 on Build GRCh38 | Insertion | PTPN6 LRRC23 LOC105369635 LPCAT3 MIR141 SCARNA12 RNU7-1 PHB2 ENO2 MIR200C C12orf57 ATN1 EMG1 |
nsv1035811 | Chr.12:6876316 - 6994911 on Build GRCh38 | Gain | PTPN6 LOC105369632 LRRC23 LOC105369635 LPCAT3 MIR141 DSTNP2 RPL13P5 SCARNA12 RNU7-1 PHB2 ENO2 MIR200C C12orf57 ATN1 EMG1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |