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SNP ID

rs139017488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:94603425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATACACCTTCAGGAACTCGAGCA[C/T]GTCGTCGGGGGATCCCAAGATCACC

Phenotype

MIM: 611570 MIM: 603027

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FBP1 PubMed Links

Gene Details

Gene

FBP1

Gene Name

fructose-bisphosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000507.3	1304	Missense Mutation	ATG,GTG	M325V	NP_000498.2
NM_001127628.1	1304	Missense Mutation	ATG,GTG	M325V	NP_001121100.1
XM_006717005.3	1304	Missense Mutation	ATG,GTG	M243V	XP_006717068.1

Gene

FBP2

Gene Name

fructose-bisphosphatase 2

There are no transcripts associated with this gene.

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