Assay Details
Target Gene Details
Entrez Gene ID: | 125965 |
Gene Name: | cytochrome c oxidase subunit 6B2 |
Gene Aliases: |
COXVIB2, CT59 |
Location: |
Chr.19:55349702-55354814 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COX6B2 | NM_144613.4 | 5 | 914 | NP_653214.2 |
AK057427.1 | 8 | 1340 | ||
BC026123.2 | 5 | 915 | ||
BC100899.2 | 4 | 751 | AAI00900.1 | |
BC100900.1 | 5 | 754 | AAI00901.1 | |
BC100901.1 | 4 | 751 | AAI00902.1 | |
BC100902.1 | 8 | 1359 | AAI00903.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv953624 | Chr.19:55302033 - 55625034 on Build GRCh38 | Deletion | COX6B2 UBE2S TMEM150B SHISA7 KMT5C FAM71E2 ZNF865 ZNF579 FIZ1 RPL28 ZNF628 SBK2 ZNF784 BRSK1 SSC5D TMEM238 TMEM190 IL11 ZNF524 NAT14 MIR6805 SBK3 ISOC2 |
nsv470162 | Chr.19:55334018 - 55390889 on Build GRCh38 | Loss | COX6B2 TMEM150B TMEM238 KMT5C FAM71E2 TMEM190 IL11 RPL28 MIR6805 |
nsv516199 | Chr.19:55342945 - 55389731 on Build GRCh38 | Loss | COX6B2 TMEM238 KMT5C FAM71E2 TMEM190 IL11 RPL28 MIR6805 |
More Information
Additional Information:
For this assay, SNP(s) [rs74986603] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |