Product Details

SNP ID
rs200164851
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:40844991 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCAACTACCTCACGAGGGAAGTGT[A/T]CCGCTCCTACCGCCAGCTGCGGACC
Phenotype
MIM: 605123
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SPINT1 PubMed Links

Gene Details

Gene
SPINT1
Gene Name
serine peptidase inhibitor, Kunitz type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001032367.1 547 Missense Mutation TAC,TTC Y146F NP_001027539.1
NM_003710.3 547 Missense Mutation TAC,TTC Y146F NP_003701.1
NM_181642.2 547 Missense Mutation TAC,TTC Y146F NP_857593.1
XM_006720657.1 547 Missense Mutation TAC,TTC Y146F XP_006720720.1
XM_011521957.1 547 Missense Mutation TAC,TTC Y146F XP_011520259.1
XM_011521958.1 547 Missense Mutation TAC,TTC Y146F XP_011520260.1

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