Product Details

SNP ID
rs150628823
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:128394342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGTCCGCTTCTCAAACTTGAGCT[C/G]TCCTGAGTACATCATGGACCTAGGA
Phenotype
MIM: 146690
Polymorphism
C/G, Transversion 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 1765 Missense Mutation CAG,GAG Q572E NP_000874.2
NM_001102605.1 1765 Missense Mutation CAG,GAG Q562E NP_001096075.1
NM_001142573.1 1765 Intron NP_001136045.1
NM_001142574.1 1765 Intron NP_001136046.1
NM_001142575.1 1765 Intron NP_001136047.1
NM_001142576.1 1765 Missense Mutation CAG,GAG Q539E NP_001136048.1
NM_001304521.1 1765 Missense Mutation CAG,GAG Q503E NP_001291450.1
NM_183243.2 1765 Intron NP_899066.1
XM_017012168.1 1765 Missense Mutation CAG,GAG Q562E XP_016867657.1
XM_017012169.1 1765 Missense Mutation CAG,GAG Q536E XP_016867658.1
XM_017012170.1 1765 Missense Mutation CAG,GAG Q503E XP_016867659.1
XM_017012171.1 1765 Missense Mutation CAG,GAG Q495E XP_016867660.1
XM_017012172.1 1765 Missense Mutation CAG,GAG Q495E XP_016867661.1
XM_017012173.1 1765 Intron XP_016867662.1

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