Product Details

SNP ID
rs143294111
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:33509881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCAACACTGACCCATTTATTTGC[A/C]TGCTTTCAATCAGATTCTTGACTTT
Phenotype
MIM: 138440
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GART PubMed Links

Gene Details

Gene
GART
Gene Name
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000819.4 2665 Missense Mutation AGG,ATG R785M NP_000810.1
NM_001136005.1 2665 Missense Mutation AGG,ATG R785M NP_001129477.1
NM_001136006.1 2665 Missense Mutation AGG,ATG R785M NP_001129478.1
NM_175085.2 2665 Intron NP_780294.1
XM_005260941.1 2665 Missense Mutation AGG,ATG R785M XP_005260998.1
XM_006723989.1 2665 Missense Mutation AGG,ATG R785M XP_006724052.1
XM_006723990.1 2665 Missense Mutation AGG,ATG R785M XP_006724053.1
XM_011529526.1 2665 Missense Mutation AGG,ATG R785M XP_011527828.1

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