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 Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MPV17 | NM_002437.4 | 8 | 720 | NP_002428.1 |
XM_005264326.3 | 8 | 732 | XP_005264383.1 | |
XM_006712021.3 | 9 | 872 | XP_006712084.1 | |
XM_017004150.1 | 9 | 3949 | XP_016859639.1 | |
XM_017004151.1 | 8 | 768 | XP_016859640.1 | |
XM_017004152.1 | 8 | 791 | XP_016859641.1 | |
AK093305.1 | 6 | 1726 | ||
BC001115.2 | 7 | 711 | AAH01115.1 | |
BC016289.2 | 7 | 654 | AAH16289.2 | |
BG714998.1 | 6 | 531 | ||
X76538.1 | 8 | 693 | 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 | SLC30A3 ZNF513 GTF3C2 EIF2B4 UCN SNX17 IFT172 TRIM54 PPM1G MPV17 DNAJC5G GTF3C2-AS1 LOC105374363 KRTCAP3 NRBP1 FTH1P3 |
nsv2654 | Chr.2:27309443 - 27336770 on Build GRCh38 | Insertion | MPV17 GTF3C2 GTF3C2-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |