Product Details

SNP ID

rs201957555

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:207062038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGTAAAACCTACGTGTCCAAGAA[A/G]CTAACACGCTACCTCAACTGGATTG

Phenotype

MIM: 171835 MIM: 612023

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PFKFB2 PubMed Links

Gene Details

Gene

PFKFB2

Gene Name

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018053.1	280	Silent Mutation	AAA,AAG	K57K	NP_001018063.1
NM_006212.2	280	Silent Mutation	AAA,AAG	K57K	NP_006203.2
XM_005273162.3	280	Intron			XP_005273219.1

Gene

YOD1

Gene Name

YOD1 deubiquitinase

There are no transcripts associated with this gene.

View Full Product Details