Product Details

SNP ID
rs150160579
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:54937658 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGACAGCCTGGTGGCAGATCACCA[A/G]TACATTCTCCTGTCGTTCTAGCTCC
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 1170 Silent Mutation CTG,TTG L367L NP_001258733.1
NM_001271805.1 1170 Silent Mutation CTG,TTG L324L NP_001258734.1
NM_002625.3 1170 Silent Mutation CTG,TTG L389L NP_002616.2
XM_017029576.1 1170 Silent Mutation CTG,TTG L418L XP_016885065.1
XM_017029577.1 1170 Silent Mutation CTG,TTG L418L XP_016885066.1
XM_017029578.1 1170 Silent Mutation CTG,TTG L367L XP_016885067.1
Gene
TRO
Gene Name
trophinin
There are no transcripts associated with this gene.

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