Product Details

SNP ID
rs9636610
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:33504231 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATATTTTATGTTCTGCTAATTTTA[C/T]TCTTTCAGAAAGAGTTGCGACAGTA
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 3237 Missense Mutation ATA,GTA I976V NP_000810.1
NM_001136005.1 3237 Missense Mutation ATA,GTA I976V NP_001129477.1
NM_001136006.1 3237 Missense Mutation ATA,GTA I976V NP_001129478.1
NM_175085.2 3237 Intron NP_780294.1
XM_005260941.1 3237 Missense Mutation ATA,GTA I976V XP_005260998.1
XM_006723989.1 3237 Missense Mutation ATA,GTA I976V XP_006724052.1
XM_006723990.1 3237 Missense Mutation ATA,GTA I976V XP_006724053.1
XM_011529526.1 3237 Missense Mutation ATA,GTA I976V XP_011527828.1

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