Product Details

SNP ID
rs150373599
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:39743237 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGAATGAATCTGAGCTTTTTGGA[C/T]GTACAATTCGTGTCAATTTGGCCAA
Phenotype
MIM: 602435
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PPIE PubMed Links

Gene Details

Gene
PPIE
Gene Name
peptidylprolyl isomerase E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195007.1 279 Intron NP_001181936.1
NM_001319293.1 279 Intron NP_001306222.1
NM_006112.3 279 Missense Mutation CGT,TGT R75C NP_006103.1
NM_203456.2 279 Intron NP_982281.1
XM_006710289.2 279 Intron XP_006710352.1
XM_006710290.3 279 Missense Mutation CGT,TGT R75C XP_006710353.1
XM_011540501.1 279 Intron XP_011538803.1
XM_017000051.1 279 Intron XP_016855540.1
XM_017000052.1 279 UTR 5 XP_016855541.1

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