Assay Details
Target Gene Details
Entrez Gene ID: | 100526835 |
Gene Name: | FPGT-TNNI3K readthrough |
Gene Aliases: |
- |
Location: |
Chr.1:74198212-74544432 on Build GRCh38 |
Assay Gene Location: | Within Exon 26 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FPGT-TNNI3K | NM_001112808.2 | 25 | 2628 | NP_001106279.2 |
AB208941.1 | 25 | 2577 | BAD92178.1 |
Target Gene Details
Entrez Gene ID: | 105378803 |
Gene Name: | leucine-rich repeat-containing protein 53 |
Gene Aliases: |
- |
Location: |
Chr.1:74468980-74540227 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LOC105378803 | XM_011542512.2 | XP_011540814.2 | ||
XM_017003081.1 | XP_016858570.1 |
Target Gene Details
Entrez Gene ID: | 51086 |
Gene Name: | TNNI3 interacting kinase |
Gene Aliases: |
CARK, CCDD |
Location: |
Chr.1:74235387-74544432 on Build GRCh38 |
Assay Gene Location: | Within Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TNNI3K | NM_015978.2 | 23 | 2323 | NP_057062.1 |
AF116826.1 | 23 | 2309 | AAD29632.1 | |
AK307984.1 | 23 | 2305 | ||
AY303691.1 | 23 | 2288 | AAP72030.1 | |
BC113539.1 | 23 | 2297 | ||
BC117262.1 | 23 | 2297 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1010042 | Chr.1:74333172 - 74536293 on Build GRCh38 | Gain |
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nsv1002115 | Chr.1:72379872 - 74933684 on Build GRCh38 | Gain |
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nsv522147 | Chr.1:73872847 - 74518151 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)