Assay Details
Target Gene Details
Entrez Gene ID: | 91647 |
Gene Name: | ATP synthase mitochondrial F1 complex assembly factor 2 |
Gene Aliases: |
ATP12, ATP12p, LP3663, MC5DN1 |
Location: |
Chr.17:18015059-18039169 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATPAF2 | XM_011524065.1 | XP_011522367.1 | ||
XM_017025303.1 | XP_016880792.1 | |||
AF070584.1 | ||||
AK296382.1 |
Target Gene Details
Entrez Gene ID: | 83450 |
Gene Name: | dynein regulatory complex subunit 3 |
Gene Aliases: |
CFAP134, LRRC48 |
Location: |
Chr.17:17972766-18016889 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DRC3 | NM_001130090.1 | 15 | 1961 | NP_001123562.1 |
NM_031294.3 | 14 | 1872 | NP_112584.3 | |
XM_006721583.3 | 12 | 1656 | XP_006721646.1 | |
XM_011524018.2 | 15 | 2021 | XP_011522320.1 | |
XM_011524019.2 | 15 | 1867 | XP_011522321.1 | |
XM_011524020.2 | 15 | 2146 | XP_011522322.1 | |
XM_011524021.2 | 15 | 1962 | XP_011522323.1 | |
XM_011524025.2 | 9 | 2288 | XP_011522327.1 | |
XM_011524026.2 | 9 | 1063 | XP_011522328.1 | |
AK093317.1 | 13 | 1723 | ||
AL136926.1 | 11 | 5628 | CAB66860.2 | |
BC047873.1 | 14 | 1800 | AAH47873.1 | |
BC050419.1 | 15 | 1822 | AAH50419.1 | |
BC050665.1 | 15 | 1818 | AAH50665.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv510701 | Chr.17:17947160 - 18052171 on Build GRCh38 | Deletion | DRC3 GID4 ATPAF2 TOM1L2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |