Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGCGATATTTATCTTGGTCTCGCA[C/G]TGCAAATTCTTCAGGGTAATGTTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 311790 | ||||||||||||||||||||
Literature Links: |
PFKFB1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
PFKFB1 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271804.1 | 1059 | Missense Mutation | CTG,GTG | L,V 330 | NP_001258733.1 | |
NM_001271805.1 | 1059 | Missense Mutation | CTG,GTG | L,V 287 | NP_001258734.1 | |
NM_002625.3 | 1059 | Missense Mutation | CTG,GTG | L,V 352 | NP_002616.2 | |
XM_017029576.1 | 1059 | Missense Mutation | CTG,GTG | L,V 381 | XP_016885065.1 | |
XM_017029577.1 | 1059 | Missense Mutation | CTG,GTG | L,V 381 | XP_016885066.1 | |
XM_017029578.1 | 1059 | Missense Mutation | CTG,GTG | L,V 330 | XP_016885067.1 |