Assay Details
Target Gene Details
Entrez Gene ID: | 29781 |
Gene Name: | non-SMC condensin II complex subunit H2 |
Gene Aliases: |
CAPH2 |
Location: |
Chr.22:50508216-50524780 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NCAPH2 | NM_001185011.1 | 20 | 2550 | NP_001171940.1 |
NM_152299.3 | 20 | 2547 | NP_689512.2 |
Target Gene Details
Entrez Gene ID: | 9997 |
Gene Name: | SCO2 cytochrome c oxidase assembly protein |
Gene Aliases: |
CEMCOX1, MYP6, SCO1L |
Location: |
Chr.22:50523568-50526439 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SCO2 | NM_001169109.1 | 2 | 637 | NP_001162580.1 |
NM_001169110.1 | 2 | 588 | NP_001162581.1 | |
NM_001169111.1 | 2 | 606 | NP_001162582.1 | |
NM_005138.2 | 2 | 577 | NP_005129.2 | |
AL021683.1 | 2 | 515 | CAA16671.1 | |
BC102024.1 | 2 | 505 | AAI02025.1 | |
BC102025.1 | 2 | 505 | AAI02026.1 | |
BG392981.1 | 2 | 589 | ||
BM787182.1 | ||||
BQ878572.1 | 2 | 577 | ||
CN409692.1 | 2 | 545 | ||
CR456569.1 | 1 | 435 | CAG30455.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2758852 | Chr.22:50491090 - 50578979 on Build GRCh38 | Loss | ODF3B CHKB SYCE3 CHKB-CPT1B SCO2 TYMP KLHDC7B LMF2 NCAPH2 CPT1B |
nsv1160782 | Chr.22:50463961 - 50571524 on Build GRCh38 | Deletion | ODF3B MIOX SYCE3 SBF1 CHKB-CPT1B ADM2 SCO2 TYMP KLHDC7B LMF2 NCAPH2 CPT1B |
nsv1057656 | Chr.22:50478783 - 50595520 on Build GRCh38 | Gain | MIOX CHKB CHKB-CPT1B TYMP LMF2 NCAPH2 ODF3B SYCE3 CHKB-AS1 ADM2 SCO2 KLHDC7B CPT1B |
nsv834238 | Chr.22:50402690 - 50556965 on Build GRCh38 | Loss | ODF3B MIOX SYCE3 PPP6R2 SBF1 ADM2 SCO2 LOC107985556 TYMP KLHDC7B LMF2 NCAPH2 |
nsv471224 | Chr.22:50435189 - 50580482 on Build GRCh38 | Loss | MIOX CHKB PPP6R2 SBF1 CHKB-CPT1B TYMP LMF2 NCAPH2 ODF3B SYCE3 ADM2 SCO2 KLHDC7B CPT1B |
nsv829340 | Chr.22:50505720 - 50603696 on Build GRCh38 | Gain | ODF3B CHKB SYCE3 CHKB-AS1 CHKB-CPT1B SCO2 TYMP KLHDC7B LMF2 NCAPH2 MAPK8IP2 CPT1B |
nsv955201 | Chr.22:50421672 - 50537371 on Build GRCh38 | Deletion | ODF3B MIOX PPP6R2 SBF1 ADM2 SCO2 LOC107985556 TYMP LMF2 NCAPH2 |
nsv834239 | Chr.22:50485317 - 50630215 on Build GRCh38 | Loss | MIOX CHKB CHKB-CPT1B TYMP LMF2 NCAPH2 MAPK8IP2 ODF3B SYCE3 CHKB-AS1 ADM2 SCO2 ARSA KLHDC7B CPT1B |
nsv589222 | Chr.22:50491152 - 50589773 on Build GRCh38 | Gain | ODF3B CHKB SYCE3 CHKB-AS1 CHKB-CPT1B SCO2 TYMP KLHDC7B LMF2 NCAPH2 CPT1B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |