Assay Details
Target Gene Details
Entrez Gene ID: | 55245 |
Gene Name: | ubiquinol-cytochrome c reductase complex assembly factor 1 |
Gene Aliases: |
BFZB, C20orf44, CBP3, UQCC |
Location: |
Chr.20:35302566-35412142 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UQCC1 | NM_001184977.1 | 8 | 1382 | NP_001171906.1 |
NM_018244.4 | 10 | 1586 | NP_060714.3 | |
NM_199487.2 | 9 | 1508 | NP_955781.2 | |
XM_011528877.1 | 11 | 1533 | XP_011527179.1 | |
XM_011528878.1 | 9 | 1395 | XP_011527180.1 | |
XM_011528879.1 | 10 | 1437 | XP_011527181.1 | |
XM_011528880.1 | 10 | 1495 | XP_011527182.1 | |
XM_011528881.2 | 9 | 1517 | XP_011527183.1 | |
XM_011528882.1 | 9 | 1371 | XP_011527184.1 | |
XM_011528883.1 | 8 | 1297 | XP_011527185.1 | |
XM_011528884.1 | 8 | 1248 | XP_011527186.1 | |
AF173893.1 | 1 | 292 | AAQ13640.1 | |
AK001712.1 | 10 | 1417 | BAA91854.1 | |
AK022650.1 | 9 | 1339 | BAB14156.1 | |
AK022742.1 | 10 | 1467 | BAB14217.1 | |
AK093804.1 | 1 | 1827 | ||
AK128252.1 | 1 | 2907 | ||
AK225557.1 | 10 | 1417 | ||
AK293149.1 | 5 | 991 | ||
AK295379.1 | 8 | 1262 | ||
AK302133.1 | 6 | 1006 | ||
AL122112.1 | 1 | 1043 | ||
AY050659.1 | 10 | 1586 | AAL13118.1 | |
AY050660.1 | AAL13119.1 | |||
BC105791.1 | AAI05792.1 | |||
BC119013.1 | 10 | 1452 | ||
BC122862.1 | 10 | 1452 | ||
BX537568.1 | 2 | 1035 | CAD97785.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1059168 | Chr.20:35217473 - 35319358 on Build GRCh38 | Loss | FAM83C-AS1 UQCC1 EIF6 MMP24-AS1 MT1P3 FAM83C MMP24 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |