Assay Details
Target Gene Details
Entrez Gene ID: | 1353 |
Gene Name: | COX11, cytochrome c oxidase copper chaperone |
Gene Aliases: |
COX11P |
Location: |
Chr.17:54951898-54971024 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COX11 | XM_011524342.2 | 1 | 1795 | XP_011522644.1 |
XM_017024192.1 | 1 | 1795 | XP_016879681.1 | |
XM_017024193.1 | 1 | 1795 | XP_016879682.1 |
Target Gene Details
Entrez Gene ID: | 252983 |
Gene Name: | syntaxin binding protein 4 |
Gene Aliases: |
Synip |
Location: |
Chr.17:54968728-55164285 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
STXBP4 | NM_178509.5 | NP_848604.3 | ||
XM_005257187.4 | XP_005257244.1 | |||
XM_006721797.3 | XP_006721860.1 | |||
XM_006721798.3 | XP_006721861.1 | |||
XM_017024410.1 | XP_016879899.1 | |||
XM_017024411.1 | XP_016879900.1 | |||
XM_017024412.1 | XP_016879901.1 | |||
XM_017024414.1 | XP_016879903.1 | |||
XM_017024415.1 | XP_016879904.1 | |||
AK122865.1 | BAC85511.1 | |||
BC041485.2 | AAH41485.1 | |||
BC125116.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv3266n100 | Chr.17:54817463 - 55002289 on Build GRCh38 | Loss | TOM1L1 STXBP4 COX11 |
nsv575661 | Chr.17:54910871 - 54982748 on Build GRCh38 | Loss | TOM1L1 STXBP4 COX11 |
dgv5708n54 | Chr.17:54962122 - 55083585 on Build GRCh38 | Loss | STXBP4 COX11 |
esv3640830 | Chr.17:54919823 - 54998005 on Build GRCh38 | Gain | TOM1L1 STXBP4 COX11 |
nsv522299 | Chr.17:54966408 - 55196549 on Build GRCh38 | Loss | STXBP4 COX11 |
More Information
Additional Information:
For this assay, SNP(s) [rs73990240] 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 Intronic Non-exonic DGV Variation |