Product Details

SNP ID
rs114500396
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:33509824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGCCACTCTGGCCTTTTTTTTT[G/T]CAAAAGAGAAATGATTTGTCAGGGA
Phenotype
MIM: 138440
Polymorphism
G/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 2722 Missense Mutation GAA,GCA E804A NP_000810.1
NM_001136005.1 2722 Missense Mutation GAA,GCA E804A NP_001129477.1
NM_001136006.1 2722 Missense Mutation GAA,GCA E804A NP_001129478.1
NM_175085.2 2722 Intron NP_780294.1
XM_005260941.1 2722 Missense Mutation GAA,GCA E804A XP_005260998.1
XM_006723989.1 2722 Missense Mutation GAA,GCA E804A XP_006724052.1
XM_006723990.1 2722 Missense Mutation GAA,GCA E804A XP_006724053.1
XM_011529526.1 2722 Missense Mutation GAA,GCA E804A XP_011527828.1

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