Product Details

SNP ID
rs71421649
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232456646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCAGAAGAATGGCAAACTGGGGC[C/T]TGAGACGCCCCTGGCCATGGACCGC
Phenotype
MIM: 171740
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALPI PubMed Links

Gene Details

Gene
ALPI
Gene Name
alkaline phosphatase, intestinal
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001631.4 339 Missense Mutation CCT,CTT P84L NP_001622.2

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