Product Details

SNP ID: rs1264
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:215360629 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAAACTAGCAATTTTAATAAATATT[G/T]GGGTCCACTTAAATCTATTAAAGCA
Phenotype: MIM: 601731 MIM: 135600
Polymorphism: G/T, 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	8083	Intron			NP_004035.2
XM_017004187.1	8083	Intron			XP_016859676.1

Transcript Accession	SNP Location	SNP Type	Protein ID
NM_001306129.1	8083	UTR 3	NP_001293058.1
NM_001306130.1	8083	UTR 3	NP_001293059.1
NM_001306131.1	8083	UTR 3	NP_001293060.1
NM_001306132.1	8083	UTR 3	NP_001293061.1
NM_002026.3	8083	UTR 3	NP_002017.1
NM_054034.2	8083	Intron	NP_473375.2
NM_212474.2	8083	UTR 3	NP_997639.1
NM_212476.2	8083	UTR 3	NP_997641.1
NM_212478.2	8083	UTR 3	NP_997643.1
NM_212482.2	8083	UTR 3	NP_997647.1
XM_005246397.1	8083	Intron	XP_005246454.1
XM_005246398.1	8083	Intron	XP_005246455.1
XM_005246399.1	8083	Intron	XP_005246456.1
XM_005246401.1	8083	Intron	XP_005246458.1
XM_005246402.1	8083	Intron	XP_005246459.1
XM_005246403.1	8083	Intron	XP_005246460.1
XM_005246404.1	8083	Intron	XP_005246461.1
XM_005246405.1	8083	Intron	XP_005246462.1
XM_005246406.1	8083	Intron	XP_005246463.1
XM_005246407.1	8083	Intron	XP_005246464.1
XM_005246408.1	8083	Intron	XP_005246465.1
XM_005246409.1	8083	Intron	XP_005246466.1
XM_005246410.1	8083	Intron	XP_005246467.1
XM_005246411.1	8083	Intron	XP_005246468.1
XM_005246412.1	8083	Intron	XP_005246469.1
XM_005246414.1	8083	Intron	XP_005246471.1
XM_005246416.1	8083	Intron	XP_005246473.1
XM_017003692.1	8083	Intron	XP_016859181.1
XM_017003693.1	8083	Intron	XP_016859182.1
XM_017003694.1	8083	Intron	XP_016859183.1
XM_017003695.1	8083	Intron	XP_016859184.1