Product Details

SNP ID
rs146624224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:81659430 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTGCTAATATTCTATTATTTGCA[A/G]CAATTACTCTTCGTGACATCAAATC
Phenotype
MIM: 602064
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IMPA1 PubMed Links

Gene Details

Gene
IMPA1
Gene Name
inositol monophosphatase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144878.1 1083 Missense Mutation GCT,GTT A311V NP_001138350.1
NM_001144879.1 1083 UTR 3 NP_001138351.1
NM_005536.3 1083 Missense Mutation GCT,GTT A252V NP_005527.1

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