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Search Thermo Fisher Scientific
CCATGGGGCCGGAGGCCTGCACCAC[C/T]GCGAGATGTGGCCATTTTACAAGAA
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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There are no transcripts associated with this gene. |
TRO - trophinin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039705.2 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | NP_001034794.1 | |
NM_001271183.1 | 1673 | UTR 5 | NP_001258112.1 | |||
NM_001271184.1 | 1673 | Missense Mutation | CCG,CTG | P,L 41 | NP_001258113.1 | |
NM_016157.3 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | NP_057241.2 | |
NM_177556.2 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | NP_808224.1 | |
NM_177557.2 | 1673 | Missense Mutation | CCG,CTG | P,L 41 | NP_808225.1 | |
XM_006724600.2 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_006724663.1 | |
XM_011530808.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_011529110.1 | |
XM_011530809.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_011529111.1 | |
XM_011530811.2 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_011529113.1 | |
XM_011530812.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_011529114.1 | |
XM_011530813.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_011529115.1 | |
XM_011530814.1 | 1673 | Missense Mutation | CCG,CTG | P,L 394 | XP_011529116.1 | |
XM_017029767.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_016885256.1 | |
XM_017029768.1 | 1673 | Missense Mutation | CCG,CTG | P,L 394 | XP_016885257.1 | |
XM_017029769.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_016885258.1 | |
XM_017029770.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_016885259.1 | |
XM_017029771.1 | 1673 | Missense Mutation | CCG,CTG | P,L 438 | XP_016885260.1 | |
XM_017029772.1 | 1673 | Missense Mutation | CCG,CTG | P,L 394 | XP_016885261.1 | |
XM_017029773.1 | 1673 | Missense Mutation | CCG,CTG | P,L 394 | XP_016885262.1 |