Product Details

SNP ID
rs144611973
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127804690 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCGAAGCTATGGCCTGAAGACG[A/G]GATTCTTTAGGTACTGGCTTGTGGG
Phenotype
MIM: 136510
Polymorphism
A/G, Transition 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_001018078.2 313 Missense Mutation AGA,GGA R76G NP_001018088.1
NM_001288803.1 313 Missense Mutation AGA,GGA R126G NP_001275732.1
NM_004957.5 313 Missense Mutation AGA,GGA R126G NP_004948.4
XM_005251864.3 313 Missense Mutation AGA,GGA R126G XP_005251921.1
XM_011518439.2 313 UTR 5 XP_011516741.1
XM_017014565.1 313 Missense Mutation AGA,GGA R76G XP_016870054.1
XM_017014566.1 313 UTR 5 XP_016870055.1

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