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 | 658 | NP_653214.2 |
AK057427.1 | 8 | 1084 | ||
BC026123.2 | 5 | 659 | ||
BC100899.2 | 4 | 495 | AAI00900.1 | |
BC100900.1 | 5 | 498 | AAI00901.1 | |
BC100901.1 | 4 | 495 | AAI00902.1 | |
BC100902.1 | 8 | 1103 | AAI00903.1 | |
BG717038.1 | 5 | 663 |
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 | MIR6805 ZNF579 TMEM190 FAM71E2 ZNF628 ZNF865 ZNF784 FIZ1 RPL28 IL11 NAT14 ISOC2 ZNF524 COX6B2 UBE2S SBK3 BRSK1 KMT5C TMEM238 TMEM150B SSC5D SHISA7 SBK2 |
nsv470162 | Chr.19:55334018 - 55390889 on Build GRCh38 | Loss | MIR6805 TMEM190 COX6B2 FAM71E2 KMT5C TMEM238 TMEM150B RPL28 IL11 |
nsv516199 | Chr.19:55342945 - 55389731 on Build GRCh38 | Loss | MIR6805 TMEM190 COX6B2 FAM71E2 KMT5C TMEM238 RPL28 IL11 |
More Information
Additional Information:
For this assay, SNP(s) [rs75135996] 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 |