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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BLOC1S5-TXNDC5 | NR_037616.1 | 6 | 628 | |
BC052310.1 | 6 | 578 | 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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TXNDC5 | NM_001145549.2 | 3 | 471 | NP_001139021.1 |
NM_030810.3 | 3 | 507 | NP_110437.2 | |
AJ440721.1 | 3 | 262 | CAD29430.1 | |
AK075291.1 | 3 | 481 | BAC11526.1 | |
AK098089.1 | 5 | 568 | ||
AK315598.1 | 3 | 472 | ||
AL833008.1 | 3 | 351 | CAH56286.1 | |
AY326464.1 | 3 | 495 | AAR99514.1 | |
AY358646.1 | 3 | 501 | AAQ89009.1 | |
BC001199.1 | 3 | 226 | AAH01199.1 | |
BU855393.1 | 3 | 288 |
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 |
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nsv600924 | Chr.6:7823346 - 8206902 on Build GRCh38 | Gain |
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esv2731544 | Chr.6:7817430 - 8348230 on Build GRCh38 | Deletion |
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esv3890787 | Chr.6:6996928 - 7981438 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)