Assay Details
Target Gene Details
Entrez Gene ID: | 56997 |
Gene Name: | coenzyme Q8A |
Gene Aliases: |
ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9 |
Location: |
Chr.1:226939339-226987545 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COQ8A | NM_020247.4 | 3 | 713 | NP_064632.2 |
XM_005273201.1 | 3 | 609 | XP_005273258.1 | |
XM_011544238.1 | 4 | 805 | XP_011542540.1 | |
XM_011544239.2 | 5 | 828 | XP_011542541.1 | |
XM_011544240.2 | 3 | 622 | XP_011542542.1 | |
XM_011544241.2 | 3 | 584 | XP_011542543.1 | |
XM_017001852.1 | 3 | 803 | XP_016857341.1 | |
AB073905.1 | 3 | 636 | BAB91363.1 | |
AK074693.1 | 3 | 656 | BAC11143.1 | |
AK090494.1 | 3 | 450 | ||
AK092784.1 | 3 | 436 | ||
AK126200.1 | ||||
AK293571.1 | 4 | 610 | ||
AK297735.1 | ||||
AK301012.1 | 5 | 634 | ||
BC005171.2 | 3 | 662 | AAH05171.2 | |
BC129930.1 | 9 | 1555 | ||
BX648860.1 | 3 | 534 | CAH56132.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv520923 | Chr.1:226939917 - 226991247 on Build GRCh38 | Loss | COQ8A LOC105379282 CDC42BPA |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |