Product Details

SNP ID

rs2054780

Assay Type

Functionally tested

NCBI dbSNP Submissions

49

Location

Chr.1:207048267 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

GGCACCTATTCCCTCATACATTCTA[C/T]GTTTTATATGCTAGAGATCTTAAAC

Phenotype

MIM: 171835 MIM: 612023

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PFKFB2 PubMed Links

Gene Details

Gene

PFKFB2

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

There are no transcripts associated with this gene.

Gene

YOD1

Gene Name

YOD1 deubiquitinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276320.1	1847	UTR 3			NP_001263249.1
NM_018566.3	1847	UTR 3			NP_061036.3

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