Product Details

SNP ID
rs202221492
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:33504526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATGGGTGGATATTGAGCATTTT[C/T]CCTAAAAATTAAAAAAAGCATAGTG
Phenotype
MIM: 138440
Polymorphism
C/T, Transition 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 3038 Silent Mutation GGA,GGG G909G NP_000810.1
NM_001136005.1 3038 Silent Mutation GGA,GGG G909G NP_001129477.1
NM_001136006.1 3038 Silent Mutation GGA,GGG G909G NP_001129478.1
NM_175085.2 3038 Intron NP_780294.1
XM_005260941.1 3038 Silent Mutation GGA,GGG G909G XP_005260998.1
XM_006723989.1 3038 Silent Mutation GGA,GGG G909G XP_006724052.1
XM_006723990.1 3038 Silent Mutation GGA,GGG G909G XP_006724053.1
XM_011529526.1 3038 Silent Mutation GGA,GGG G909G XP_011527828.1

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