Product Details

SNP ID
rs148416501
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:54937609 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGTAGTACCTGAACTTTTATCC[A/G]GGAAATAGGCCAGGAGGCACCGCAT
Phenotype
MIM: 311790 MIM: 300132
Polymorphism
A/G, 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 1219 Missense Mutation CCG,CTG P383L NP_001258733.1
NM_001271805.1 1219 Missense Mutation CCG,CTG P340L NP_001258734.1
NM_002625.3 1219 Missense Mutation CCG,CTG P405L NP_002616.2
XM_017029576.1 1219 Missense Mutation CCG,CTG P434L XP_016885065.1
XM_017029577.1 1219 Missense Mutation CCG,CTG P434L XP_016885066.1
XM_017029578.1 1219 Missense Mutation CCG,CTG P383L XP_016885067.1
Gene
TRO
Gene Name
trophinin
There are no transcripts associated with this gene.

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