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 Intron 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FPGT-TNNI3K | NM_001112808.2 | NP_001106279.2 | ||
AB208941.1 | 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 Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LOC105378803 | XM_011542512.2 | 3 | 4971 | XP_011540814.2 |
XM_017003080.1 | 4 | 2542 | XP_016858569.1 | |
XM_017003081.1 | 4 | 5787 | 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 Intron 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TNNI3K | NM_015978.2 | NP_057062.1 | ||
AF116826.1 | AAD29632.1 | |||
AK307984.1 | ||||
AY303691.1 | AAP72030.1 | |||
BC113539.1 | ||||
BC117262.1 |
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 | TNNI3K LOC105378803 FPGT-TNNI3K |
nsv1002115 | Chr.1:72379872 - 74933684 on Build GRCh38 | Gain | LOC339468 LINC01360 ERICH3-AS1 FPGT LRRIQ3 TYW3 TNNI3K LOC105378803 FPGT-TNNI3K ERICH3 CRYZ |
nsv522147 | Chr.1:73872847 - 74518151 on Build GRCh38 | Loss | FPGT LRRIQ3 TNNI3K LOC105378803 FPGT-TNNI3K |
More Information
Additional Information:
For this assay, SNP(s) [rs79413610] 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 |