Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGCGCATGCGTGCTGTGCGGCGCG[C/G]TCTCAGGGAAGGTGGGGCTATGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 603609 | ||||||||||||||||||||
Literature Links: |
FPGT PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
FPGT - fucose-1-phosphate guanylyltransferase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199328.2 | 48 | Missense Mutation | GCT,GGT | A,G 7 | NP_001186257.2 | |
NM_001199329.2 | 48 | Missense Mutation | GCT,GGT | A,G 7 | NP_001186258.2 | |
NM_003838.4 | 48 | Missense Mutation | GCT,GGT | A,G 7 | NP_003829.3 |
FPGT-TNNI3K - FPGT-TNNI3K readthrough | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001112808.2 | 48 | Missense Mutation | GCT,GGT | A,G 7 | NP_001106279.2 | |
NM_001199327.1 | 48 | Missense Mutation | GCT,GGT | A,G 7 | NP_001186256.2 |
LRRIQ3 - leucine rich repeats and IQ motif containing 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105659.1 | 48 | Intron | NP_001099129.1 | |||
NM_001322315.1 | 48 | Intron | NP_001309244.1 | |||
XM_011540658.1 | 48 | Intron | XP_011538960.1 | |||
XM_011540659.1 | 48 | Intron | XP_011538961.1 | |||
XM_011540660.1 | 48 | Intron | XP_011538962.1 | |||
XM_011540662.2 | 48 | Intron | XP_011538964.1 | |||
XM_011540663.2 | 48 | Intron | XP_011538965.1 | |||
XM_017000286.1 | 48 | Intron | XP_016855775.1 | |||
XM_017000287.1 | 48 | Intron | XP_016855776.1 | |||
XM_017000288.1 | 48 | Intron | XP_016855777.1 |