Product Details

SNP ID
rs2898199
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:33504280 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCACCCCTCTTCACGGGAACAGC[A/T]TCTTGCAAAATAATCTGTCCAGCAT
Phenotype
MIM: 138440
Polymorphism
A/T, 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 3188 Missense Mutation GAA,GAT E959D NP_000810.1
NM_001136005.1 3188 Missense Mutation GAA,GAT E959D NP_001129477.1
NM_001136006.1 3188 Missense Mutation GAA,GAT E959D NP_001129478.1
NM_175085.2 3188 Intron NP_780294.1
XM_005260941.1 3188 Missense Mutation GAA,GAT E959D XP_005260998.1
XM_006723989.1 3188 Missense Mutation GAA,GAT E959D XP_006724052.1
XM_006723990.1 3188 Missense Mutation GAA,GAT E959D XP_006724053.1
XM_011529526.1 3188 Missense Mutation GAA,GAT E959D XP_011527828.1

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