Product Details

SNP ID
rs138718073
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45176067 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCCTAACCGCTGCTTGAAAGAT[A/T]CTGACTGCCCAGGAATCAAGAAGTG
Phenotype
MIM: 182257
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PI3 PubMed Links

Gene Details

Gene
PI3
Gene Name
peptidase inhibitor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002638.3 310 Missense Mutation ACT,TCT T96S NP_002629.1

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