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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FPGT | NM_001199328.2 | NP_001186257.2 | ||
NM_001199329.2 | NP_001186258.2 | |||
NM_003838.4 | 4 | 793 | NP_003829.3 | |
AF017445.1 | 4 | 763 | AAC73005.1 | |
AK223254.1 | 4 | 760 | BAD96974.1 | |
AK294948.1 | ||||
AK299468.1 | ||||
AK304490.1 | ||||
BC032308.1 | 4 | 749 | AAH32308.1 | |
KU178439.1 | 4 | 726 | ||
KU178440.1 | ||||
KU178441.1 |
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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FPGT-TNNI3K | NM_001112808.2 | NP_001106279.2 | ||
NM_001199327.1 | NP_001186256.2 | |||
AB208941.1 | BAD92178.1 | |||
BC032865.1 | AAH32865.1 | |||
BX640903.1 | 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 | FPGT LRRIQ3 FPGT-TNNI3K |
esv3893723 | Chr.1:73643288 - 74246497 on Build GRCh38 | Gain | FPGT TNNI3K LRRIQ3 FPGT-TNNI3K |
nsv1002115 | Chr.1:72379872 - 74933684 on Build GRCh38 | Gain | FPGT CRYZ ERICH3 TNNI3K ERICH3-AS1 LRRIQ3 TYW3 LINC01360 FPGT-TNNI3K LOC105378803 LOC339468 |
nsv522147 | Chr.1:73872847 - 74518151 on Build GRCh38 | Loss | FPGT TNNI3K LRRIQ3 FPGT-TNNI3K LOC105378803 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |