Product Details

SNP ID
rs11550204
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:215312151 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCAGTGCCTGCAGCCATGGCTCC[C/G]GGCCAGCTCGGTGAGGCCCTAGCGG
Phenotype
MIM: 601731
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATIC PubMed Links

Gene Details

Gene
ATIC
Gene Name
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004044.6 196 Silent Mutation CCC,CCG P3P NP_004035.2
XM_017004187.1 196 Silent Mutation CCC,CCG P3P XP_016859676.1

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