Product Details

SNP ID
rs149185061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:7191570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTTTCTCTCTCTCTCTTTTAAGC[C/T]CCTGGTGTGGCAGACTTGGCCTTGT
Phenotype
MIM: 600414
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PEX5 PubMed Links

Gene Details

Gene
PEX5
Gene Name
peroxisomal biogenesis factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000319.4 675 Silent Mutation GCC,GCT A106A NP_000310.2
NM_001131023.1 675 Silent Mutation GCC,GCT A121A NP_001124495.1
NM_001131024.1 675 Silent Mutation GCC,GCT A106A NP_001124496.1
NM_001131025.1 675 Silent Mutation GCC,GCT A106A NP_001124497.1
NM_001131026.1 675 Silent Mutation GCC,GCT A106A NP_001124498.1
NM_001300789.1 675 Silent Mutation GCC,GCT A127A NP_001287718.1
XM_005253455.1 675 Silent Mutation GCC,GCT A127A XP_005253512.1
XM_011520793.2 675 Silent Mutation GCC,GCT A142A XP_011519095.1
XM_011520795.1 675 Silent Mutation GCC,GCT A121A XP_011519097.1
XM_011520797.1 675 Silent Mutation GCC,GCT A106A XP_011519099.1
XM_011520798.1 675 Silent Mutation GCC,GCT A106A XP_011519100.1
XM_011520799.2 675 Silent Mutation GCC,GCT A106A XP_011519101.1
XM_011520800.1 675 Silent Mutation GCC,GCT A106A XP_011519102.1
XM_011520801.2 675 Silent Mutation GCC,GCT A142A XP_011519103.1
XM_011520802.2 675 Silent Mutation GCC,GCT A23A XP_011519104.1
XM_017019744.1 675 Silent Mutation GCC,GCT A254A XP_016875233.1
XM_017019745.1 675 Silent Mutation GCC,GCT A254A XP_016875234.1
XM_017019746.1 675 Silent Mutation GCC,GCT A254A XP_016875235.1
XM_017019747.1 675 Silent Mutation GCC,GCT A254A XP_016875236.1
XM_017019748.1 675 Silent Mutation GCC,GCT A121A XP_016875237.1
XM_017019749.1 675 Silent Mutation GCC,GCT A106A XP_016875238.1
XM_017019750.1 675 Silent Mutation GCC,GCT A106A XP_016875239.1
XM_017019751.1 675 Silent Mutation GCC,GCT A121A XP_016875240.1
XM_017019752.1 675 Silent Mutation GCC,GCT A106A XP_016875241.1
XM_017019753.1 675 Silent Mutation GCC,GCT A106A XP_016875242.1
XM_017019754.1 675 Silent Mutation GCC,GCT A106A XP_016875243.1
XM_017019755.1 675 Silent Mutation GCC,GCT A106A XP_016875244.1
XM_017019756.1 675 Silent Mutation GCC,GCT A106A XP_016875245.1
XM_017019757.1 675 Silent Mutation GCC,GCT A106A XP_016875246.1

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