Assay Details
Target Gene Details
Entrez Gene ID: | 8790 |
Gene Name: | fucose-1-phosphate guanylyltransferase |
Gene Aliases: |
GFPP |
Location: |
Chr.1:74198212-74208702 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FPGT | NM_001199328.2 | 2 | 272 | NP_001186257.2 |
NM_001199329.2 | 2 | 272 | NP_001186258.2 | |
NM_003838.4 | 2 | 272 | NP_003829.3 | |
AF017445.1 | 2 | 242 | AAC73005.1 | |
AK223254.1 | 2 | 239 | BAD96974.1 | |
AK294948.1 | 2 | 244 | ||
AK299468.1 | 2 | 217 | ||
AK304490.1 | 2 | 240 | ||
BC020720.1 | 2 | 246 | ||
BC032308.1 | 2 | 228 | AAH32308.1 | |
DB066016.1 | 2 | 275 | ||
KU178439.1 | 2 | 205 | ||
KU178440.1 | 2 | 205 | ||
KU178441.1 | 2 | 205 |
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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FPGT-TNNI3K | NM_001112808.2 | 2 | 272 | NP_001106279.2 |
NM_001199327.1 | 2 | 272 | NP_001186256.2 | |
AB208941.1 | 2 | 221 | BAD92178.1 | |
BC032865.1 | 2 | 245 | AAH32865.1 | |
BX640903.1 | 2 | 257 | CAE45949.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv28e214 | Chr.1:74183056 - 74208995 on Build GRCh38 | Gain |
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esv3893723 | Chr.1:73643288 - 74246497 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:
Molecular Function -
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_next.png)
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_next.png)
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_next.png)
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)