Product Details

SNP ID
rs142436431
Assay Type
Functionally tested
NCBI dbSNP Submissions
18
Location
Chr.1:42666023 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAATGGCTGTCAGTTCTTTATCA[C/T]CTGCTCTAAGTGCGATTGGCTGGAT
Phenotype
MIM: 606095
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PPIH PubMed Links

Gene Details

Gene
PPIH
Gene Name
peptidylprolyl isomerase H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006347.3 964 Intron NP_006338.1
XM_005270362.1 964 Missense Mutation ACC,ATC T127I XP_005270419.1
XM_005270366.3 964 Missense Mutation ACC,ATC T96I XP_005270423.1
XM_011540508.1 964 Intron XP_011538810.1
XM_017000057.1 964 Missense Mutation ACC,ATC T127I XP_016855546.1
XM_017000058.1 964 Missense Mutation ACC,ATC T84I XP_016855547.1
XM_017000059.1 964 Missense Mutation ACC,ATC T84I XP_016855548.1

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