Product Details

SNP ID
rs2070390
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:33506143 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAACAGCAGTGAGCTCATACTACT[A/T]CTTCTTTTTTTTTTTTTGAGAGGGA
Phenotype
MIM: 138440
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
GART PubMed Links
Additional Information
For this assay, SNP(s) [rs147818614] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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 Intron NP_000810.1
NM_001136005.1 Intron NP_001129477.1
NM_001136006.1 Intron NP_001129478.1
NM_175085.2 Intron NP_780294.1
XM_005260941.1 Intron XP_005260998.1
XM_006723989.1 Intron XP_006724052.1
XM_006723990.1 Intron XP_006724053.1
XM_011529526.1 Intron XP_011527828.1

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