Product Details

SNP ID: rs75086019
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:215319722 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGACATGGCCAGACTTGATTTCA[A/G]TCTTATAAGGTAAAAACCTGAAATT
Phenotype: MIM: 601731
Polymorphism: A/G, Transition 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	468	Missense Mutation	AAT,AGT	N94S	NP_004035.2
XM_017004187.1	468	Missense Mutation	AAT,AGT	N94S	XP_016859676.1