Product Details

SNP ID
rs35493987
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206154 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGGGCCTCCTGCATGCGGCGCCG[C/G]GCTCGACGGAAGGCCTCTGTAAGGA
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EPX PubMed Links

Gene Details

Gene
EPX
Gene Name
eosinophil peroxidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000502.5 1694 Intron NP_000493.1
Gene
MKS1
Gene Name
Meckel syndrome, type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165927.1 1694 Silent Mutation GCC,GCG A525A NP_001159399.1
NM_001321268.1 1694 Silent Mutation GCC,GCG A332A NP_001308197.1
NM_001321269.1 1694 Missense Mutation CCG,GCG P508A NP_001308198.1
NM_017777.3 1694 Silent Mutation GCC,GCG A535A NP_060247.2
XM_005257485.3 1694 Missense Mutation CCG,GCG P365A XP_005257542.1
XM_006721965.2 1694 Missense Mutation CCG,GCG P305A XP_006722028.1
XM_011524957.2 1694 Missense Mutation CCG,GCG P511A XP_011523259.1
XM_011524958.2 1694 Silent Mutation GCC,GCG A538A XP_011523260.1
XM_011524959.2 1694 UTR 3 XP_011523261.1
XM_011524960.2 1694 Intron XP_011523262.1
XM_017024803.1 1694 UTR 3 XP_016880292.1
XM_017024804.1 1694 Intron XP_016880293.1
XM_017024805.1 1694 Silent Mutation GCC,GCG A392A XP_016880294.1

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