Assay Details
Target Gene Details
Entrez Gene ID: | 100526836 |
Gene Name: | BLOC1S5-TXNDC5 readthrough (NMD candidate) |
Gene Aliases: |
MUTED-TXNDC5 |
Location: |
Chr.6:7881250-8064414 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| BLOC1S5-TXNDC5 | NR_037616.1 | 13 | 2221 | |
| BC052310.1 | 13 | 2171 | AAH52310.1 |
Target Gene Details
Entrez Gene ID: | 81567 |
Gene Name: | thioredoxin domain containing 5 |
Gene Aliases: |
ENDOPDI, ERP46, HCC-2, HCC2, PDIA15, STRF8, UNQ364 |
Location: |
Chr.6:7881250-7910814 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TXNDC5 | NM_001145549.2 | 10 | 2064 | NP_001139021.1 |
| NM_030810.3 | 10 | 2100 | NP_110437.2 | |
| AK025006.1 | 4 | 1840 | ||
| AK075291.1 | 10 | 2074 | BAC11526.1 | |
| AK098089.1 | 13 | 2076 | ||
| AL833008.1 | 10 | 1944 | CAH56286.1 | |
| AL834423.1 | 7 | 1498 | CAD39084.1 | |
| AY326464.1 | 10 | 2088 | AAR99514.1 | |
| AY358646.1 | 10 | 2094 | AAQ89009.1 | |
| BC001199.1 | 10 | 1819 | AAH01199.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv462625 | Chr.6:7868633 - 7906906 on Build GRCh38 | Loss |
|
| nsv830582 | Chr.6:7706847 - 7889468 on Build GRCh38 | Loss |
|
| nsv600924 | Chr.6:7823346 - 8206902 on Build GRCh38 | Gain |
|
| esv2731544 | Chr.6:7817430 - 8348230 on Build GRCh38 | Deletion |
|
| esv3890787 | Chr.6:6996928 - 7981438 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map