Product Details

SNP ID
rs148978468
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127804516 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCCAGGTGGAGGACTTGGACCG[G/T]CTGAACATCATCCACGTCACTGGGA
Phenotype
MIM: 136510
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FPGS PubMed Links

Gene Details

Gene
FPGS
Gene Name
folylpolyglutamate synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018078.2 222 Silent Mutation CGG,CGT R45R NP_001018088.1
NM_001288803.1 222 Silent Mutation CGG,CGT R95R NP_001275732.1
NM_004957.5 222 Silent Mutation CGG,CGT R95R NP_004948.4
XM_005251864.3 222 Silent Mutation CGG,CGT R95R XP_005251921.1
XM_011518439.2 222 Intron XP_011516741.1
XM_017014565.1 222 Silent Mutation CGG,CGT R45R XP_016870054.1
XM_017014566.1 222 UTR 5 XP_016870055.1

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