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 | 2994 | NP_001171940.1 |
NM_152299.3 | 20 | 2991 | 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: | Overlaps Intron 3 - Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SCO2 | NM_001169109.1 | NP_001162580.1 | ||
NM_001169110.1 | NP_001162581.1 | |||
NM_001169111.1 | NP_001162582.1 | |||
NM_005138.2 | NP_005129.2 | |||
AL021683.1 | CAA16671.1 | |||
BC102024.1 | AAI02025.1 | |||
BC102025.1 | AAI02026.1 | |||
BG392981.1 | ||||
BM787182.1 | ||||
BQ878572.1 | ||||
CN409692.1 | ||||
CR456569.1 | 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 TYMP CHKB NCAPH2 CPT1B LMF2 SYCE3 SCO2 KLHDC7B CHKB-CPT1B |
nsv1160782 | Chr.22:50463961 - 50571524 on Build GRCh38 | Deletion | ODF3B TYMP NCAPH2 CPT1B LMF2 SYCE3 ADM2 MIOX SBF1 SCO2 KLHDC7B CHKB-CPT1B |
nsv1057656 | Chr.22:50478783 - 50595520 on Build GRCh38 | Gain | TYMP CHKB NCAPH2 ADM2 MIOX KLHDC7B CHKB-CPT1B ODF3B CHKB-AS1 CPT1B LMF2 SYCE3 SCO2 |
nsv834238 | Chr.22:50402690 - 50556965 on Build GRCh38 | Loss | ODF3B TYMP LOC107985556 NCAPH2 LMF2 PPP6R2 SYCE3 ADM2 MIOX SBF1 SCO2 KLHDC7B |
nsv471224 | Chr.22:50435189 - 50580482 on Build GRCh38 | Loss | TYMP CHKB NCAPH2 PPP6R2 ADM2 MIOX SBF1 KLHDC7B CHKB-CPT1B ODF3B CPT1B LMF2 SYCE3 SCO2 |
nsv829340 | Chr.22:50505720 - 50603696 on Build GRCh38 | Gain | ODF3B TYMP CHKB CHKB-AS1 NCAPH2 MAPK8IP2 CPT1B LMF2 SYCE3 SCO2 KLHDC7B CHKB-CPT1B |
nsv955201 | Chr.22:50421672 - 50537371 on Build GRCh38 | Deletion | ODF3B TYMP LOC107985556 NCAPH2 LMF2 PPP6R2 ADM2 MIOX SBF1 SCO2 |
nsv834239 | Chr.22:50485317 - 50630215 on Build GRCh38 | Loss | TYMP CHKB ARSA NCAPH2 MAPK8IP2 ADM2 MIOX KLHDC7B CHKB-CPT1B ODF3B CHKB-AS1 CPT1B LMF2 SYCE3 SCO2 |
nsv589222 | Chr.22:50491152 - 50589773 on Build GRCh38 | Gain | ODF3B TYMP CHKB CHKB-AS1 NCAPH2 CPT1B LMF2 SYCE3 SCO2 KLHDC7B CHKB-CPT1B |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |