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 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UQCC1 | NM_001184977.1 | 7 | 693 | NP_001171906.1 |
NM_018244.4 | 9 | 897 | NP_060714.3 | |
NM_199487.2 | 8 | 819 | NP_955781.2 | |
XM_011528877.1 | 10 | 844 | XP_011527179.1 | |
XM_011528878.1 | 8 | 706 | XP_011527180.1 | |
XM_011528879.1 | 9 | 748 | XP_011527181.1 | |
XM_011528880.1 | 9 | 806 | XP_011527182.1 | |
XM_011528881.2 | 8 | 828 | XP_011527183.1 | |
XM_011528882.1 | 8 | 682 | XP_011527184.1 | |
XM_011528883.1 | 7 | 608 | XP_011527185.1 | |
XM_011528884.1 | 7 | 559 | XP_011527186.1 | |
AK001712.1 | 9 | 728 | BAA91854.1 | |
AK022650.1 | 8 | 650 | BAB14156.1 | |
AK022742.1 | 9 | 778 | BAB14217.1 | |
AK225281.1 | 9 | 737 | ||
AK225557.1 | 9 | 728 | ||
AK293149.1 | 4 | 302 | ||
AK293516.1 | 7 | 524 | ||
AK295379.1 | 7 | 573 | ||
AK300130.1 | 7 | 597 | ||
AK302133.1 | 5 | 317 | ||
AY050659.1 | 9 | 897 | AAL13118.1 | |
AY050660.1 | 7 | 619 | AAL13119.1 | |
BC105791.1 | 9 | 732 | AAI05792.1 | |
BC119013.1 | 9 | 763 | ||
BC122862.1 | 9 | 763 | ||
BM919736.1 | 9 | 750 | ||
BX537568.1 | 1 | 347 | 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 MT1P3 MMP24 FAM83C UQCC1 EIF6 MMP24-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |