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 Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATPAF2 | XM_011524065.1 | 8 | 953 | XP_011522367.1 |
XM_017025303.1 | 7 | 806 | XP_016880792.1 | |
AF070584.1 | 6 | 600 | ||
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: | Overlaps Exon 16 - Intron 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DRC3 | NM_001130090.1 | NP_001123562.1 | ||
NM_031294.3 | NP_112584.3 | |||
XM_006721583.3 | XP_006721646.1 | |||
XM_011524018.2 | XP_011522320.1 | |||
XM_011524019.2 | XP_011522321.1 | |||
XM_011524020.2 | XP_011522322.1 | |||
XM_011524021.2 | XP_011522323.1 | |||
XM_011524025.2 | XP_011522327.1 | |||
XM_011524026.2 | XP_011522328.1 | |||
AK093317.1 | ||||
AL136926.1 | CAB66860.2 | |||
BC047873.1 | AAH47873.1 | |||
BC050419.1 | AAH50419.1 | |||
BC050665.1 | 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 | TOM1L2 ATPAF2 GID4 DRC3 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |