Product Details

SNP ID: rs149652377
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:215319677 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTTTTTAAATTAGGAATCCTAGCTC[A/G]TAATATTCCAGAAGATAATGCTGAC
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	423	Missense Mutation	CAT,CGT	H79R	NP_004035.2
XM_017004187.1	423	Missense Mutation	CAT,CGT	H79R	XP_016859676.1