Assay Details
Target Gene Details
Entrez Gene ID: | 9973 |
Gene Name: | copper chaperone for superoxide dismutase |
Gene Aliases: |
- |
Location: |
Chr.11:66593162-66606019 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 4 - Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CCS | NM_005125.1 | NP_005116.1 | ||
AF002210.1 | AAC51764.1 | |||
AY113179.1 | AAM50090.1 | |||
BC105016.1 | AAI05017.1 | |||
BC112055.1 | AAI12056.1 | |||
CR541928.1 | CAG46726.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv522277 | Chr.11:66466552 - 66726354 on Build GRCh38 | Loss | SPTBN2 RBM4 DPP3 BBS1 CCS CCDC87 LOC101928069 CTSF RBM4B RBM14-RBM4 ZDHHC24 RBM14 ACTN3 PELI3 |
nsv363 | Chr.11:66597906 - 66629110 on Build GRCh38 | Insertion | RBM14-RBM4 RBM14 CCS |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |