Assay Details
Target Gene Details
Entrez Gene ID: | 4358 |
Gene Name: | MPV17, mitochondrial inner membrane protein |
Gene Aliases: |
MTDPS6, SYM1 |
Location: |
Chr.2:27309492-27323102 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MPV17 | NM_002437.4 | NP_002428.1 | ||
XM_005264326.3 | XP_005264383.1 | |||
XM_006712021.3 | XP_006712084.1 | |||
XM_017004150.1 | XP_016859639.1 | |||
XM_017004151.1 | XP_016859640.1 | |||
XM_017004152.1 | XP_016859641.1 | |||
AF088036.1 | ||||
AK093305.1 | ||||
BC001115.2 | AAH01115.1 | |||
BC016289.2 | AAH16289.2 | |||
BG714998.1 | ||||
BI602840.1 | ||||
KU178195.1 | ||||
KU178196.1 | ||||
KU178197.1 | ||||
KU178198.1 | ||||
X76538.1 | CAA54047.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833614 | Chr.2:27263559 - 27452213 on Build GRCh38 | Gain | GTF3C2-AS1 KRTCAP3 FTH1P3 NRBP1 SLC30A3 ZNF513 UCN GTF3C2 EIF2B4 DNAJC5G SNX17 MPV17 IFT172 TRIM54 PPM1G LOC105374363 |
nsv2654 | Chr.2:27309443 - 27336770 on Build GRCh38 | Insertion | GTF3C2-AS1 MPV17 GTF3C2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |