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 | 578 | NP_002428.1 |
XM_005264326.3 | 8 | 590 | XP_005264383.1 | |
XM_006712021.3 | 9 | 730 | XP_006712084.1 | |
XM_017004150.1 | 9 | 3807 | XP_016859639.1 | |
XM_017004151.1 | 8 | 626 | XP_016859640.1 | |
XM_017004152.1 | 8 | 649 | XP_016859641.1 | |
AK093305.1 | 6 | 1584 | ||
BC001115.2 | 7 | 569 | AAH01115.1 | |
BC016289.2 | 7 | 512 | AAH16289.2 | |
BG714998.1 | 6 | 389 | ||
BI602840.1 | 7 | 828 | ||
KU178195.1 | ||||
KU178196.1 | ||||
KU178197.1 | ||||
KU178198.1 | ||||
X76538.1 | 8 | 551 | 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 | KRTCAP3 GTF3C2 UCN LOC105374363 SNX17 GTF3C2-AS1 IFT172 TRIM54 SLC30A3 EIF2B4 ZNF513 DNAJC5G PPM1G FTH1P3 MPV17 NRBP1 |
nsv2654 | Chr.2:27309443 - 27336770 on Build GRCh38 | Insertion | GTF3C2 GTF3C2-AS1 MPV17 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |