Product Details

SNP ID
rs199768768
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:40844595 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGATGGCCCGCGCCCGCCTCGCCC[C/T]GGCCGGCATCCCTGCCGTCGCCTTG
Phenotype
MIM: 605123
Polymorphism
C/T, Transition 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_001032367.1 151 Missense Mutation CCG,CTG P14L NP_001027539.1
NM_003710.3 151 Missense Mutation CCG,CTG P14L NP_003701.1
NM_181642.2 151 Missense Mutation CCG,CTG P14L NP_857593.1
XM_006720657.1 151 Missense Mutation CCG,CTG P14L XP_006720720.1
XM_011521957.1 151 Missense Mutation CCG,CTG P14L XP_011520259.1
XM_011521958.1 151 Missense Mutation CCG,CTG P14L XP_011520260.1

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