Product Details

SNP ID
rs140785990
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:128394964 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCATGCCCCGGTACTTCTTGAGC[C/T]GCACCCCGTCTGAGAAGAAGTACTC
Phenotype
MIM: 146690
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IMPDH1 PubMed Links

Gene Details

Gene
IMPDH1
Gene Name
inosine monophosphate dehydrogenase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000883.3 1526 Missense Mutation CAG,CGG Q492R NP_000874.2
NM_001102605.1 1526 Missense Mutation CAG,CGG Q482R NP_001096075.1
NM_001142573.1 1526 Intron NP_001136045.1
NM_001142574.1 1526 Intron NP_001136046.1
NM_001142575.1 1526 Intron NP_001136047.1
NM_001142576.1 1526 Missense Mutation CAG,CGG Q459R NP_001136048.1
NM_001304521.1 1526 Missense Mutation CAG,CGG Q423R NP_001291450.1
NM_183243.2 1526 Intron NP_899066.1
XM_017012168.1 1526 Missense Mutation CAG,CGG Q482R XP_016867657.1
XM_017012169.1 1526 Missense Mutation CAG,CGG Q456R XP_016867658.1
XM_017012170.1 1526 Missense Mutation CAG,CGG Q423R XP_016867659.1
XM_017012171.1 1526 Missense Mutation CAG,CGG Q415R XP_016867660.1
XM_017012172.1 1526 Missense Mutation CAG,CGG Q415R XP_016867661.1
XM_017012173.1 1526 Intron XP_016867662.1

View Full Product Details