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CGGCCTCCACATTCAGGTAGATGGA[C/T]TCCACTTTGCAGCCTTAGAAAAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 311790 MIM: 300132 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PFKFB1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PFKFB1 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271804.1 | 1310 | Silent Mutation | GAA,GAG | E,E 413 | NP_001258733.1 | |
NM_001271805.1 | 1310 | Silent Mutation | GAA,GAG | E,E 370 | NP_001258734.1 | |
NM_002625.3 | 1310 | Silent Mutation | GAA,GAG | E,E 435 | NP_002616.2 | |
XM_017029576.1 | 1310 | Silent Mutation | GAA,GAG | E,E 464 | XP_016885065.1 | |
XM_017029577.1 | 1310 | Intron | XP_016885066.1 | |||
XM_017029578.1 | 1310 | Silent Mutation | GAA,GAG | E,E 413 | XP_016885067.1 |
TRO - trophinin | ||||||
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There are no transcripts associated with this gene. |