Product Details

SNP ID
rs141995766
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48523777 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGATGACCAGCACATTCTCTTG[C/T]CTCTCCAGCTCCATGATGACAGGCT
Phenotype
MIM: 605320
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PFKFB4 PubMed Links

Gene Details

Gene
PFKFB4
Gene Name
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317134.1 1225 Silent Mutation AGA,AGG R411R NP_001304063.1
NM_001317135.1 1225 Silent Mutation AGA,AGG R375R NP_001304064.1
NM_001317136.1 1225 Silent Mutation AGA,AGG R371R NP_001304065.1
NM_001317137.1 1225 Silent Mutation AGA,AGG R347R NP_001304066.1
NM_001317138.1 1225 Silent Mutation AGA,AGG R191R NP_001304067.1
NM_004567.3 1225 Silent Mutation AGA,AGG R382R NP_004558.1
XM_011533829.2 1225 Silent Mutation AGA,AGG R384R XP_011532131.1
XM_017006614.1 1225 Silent Mutation AGA,AGG R411R XP_016862103.1
XM_017006615.1 1225 Silent Mutation AGA,AGG R376R XP_016862104.1
XM_017006616.1 1225 Silent Mutation AGA,AGG R370R XP_016862105.1
XM_017006617.1 1225 Silent Mutation AGA,AGG R371R XP_016862106.1

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