Product Details

SNP ID
rs201014781
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:54933872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCCTCCACATTCAGGTAGATGGA[C/T]TCCACTTTGCAGCCTTAGAAAAGAA
Phenotype
MIM: 311790 MIM: 300132
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PFKFB1 PubMed Links

Gene Details

Gene
PFKFB1
Gene Name
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271804.1 1310 Silent Mutation GAA,GAG E413E NP_001258733.1
NM_001271805.1 1310 Silent Mutation GAA,GAG E370E NP_001258734.1
NM_002625.3 1310 Silent Mutation GAA,GAG E435E NP_002616.2
XM_017029576.1 1310 Silent Mutation GAA,GAG E464E XP_016885065.1
XM_017029577.1 1310 Intron XP_016885066.1
XM_017029578.1 1310 Silent Mutation GAA,GAG E413E XP_016885067.1
Gene
TRO
Gene Name
trophinin
There are no transcripts associated with this gene.

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