Assay Details
Target Gene Details
Entrez Gene ID: | 386683 |
Gene Name: | keratin associated protein 12-3 |
Gene Aliases: |
KRTAP12.3 |
Location: |
Chr.21:44657932-44658341 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| KRTAP12-3 | NM_198697.2 | 1 | 126 | NP_941970.2 |
| AB076361.1 | 1 | 126 | BAD01548.1 |
Target Gene Details
Entrez Gene ID: | 54084 |
Gene Name: | thrombospondin type laminin G domain and EAR repeats |
Gene Aliases: |
C21orf29, DFNB98, TSP-EAR |
Location: |
Chr.21:44497892-44711580 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TSPEAR | NM_001272037.1 | NP_001258966.1 | ||
| NM_144991.2 | NP_659428.2 | |||
| AJ487962.1 | CAD32309.1 | |||
| BC115415.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2760705 | Chr.21:44629373 - 44694682 on Build GRCh38 | Gain |
|
| esv2723675 | Chr.21:44602654 - 44768117 on Build GRCh38 | Deletion |
|
More Information
Set Membership: |
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Genomic Map