Product Details

SNP ID
rs35464956
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206150 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCCCGGGCCTCCTGCATGCGGC[G/A]CCGGGCTCGACGGAAGGCCTCTGTA
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
G/A, Transition 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 1698 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 1698 Missense Mutation CGC,TGC R527C NP_001159399.1
NM_001321268.1 1698 Missense Mutation CGC,TGC R334C NP_001308197.1
NM_001321269.1 1698 Missense Mutation GCG,GTG A509V NP_001308198.1
NM_017777.3 1698 Missense Mutation CGC,TGC R537C NP_060247.2
XM_005257485.3 1698 Missense Mutation GCG,GTG A366V XP_005257542.1
XM_006721965.2 1698 Missense Mutation GCG,GTG A306V XP_006722028.1
XM_011524957.2 1698 Missense Mutation GCG,GTG A512V XP_011523259.1
XM_011524958.2 1698 Missense Mutation CGC,TGC R540C XP_011523260.1
XM_011524959.2 1698 UTR 3 XP_011523261.1
XM_011524960.2 1698 Intron XP_011523262.1
XM_017024803.1 1698 UTR 3 XP_016880292.1
XM_017024804.1 1698 Intron XP_016880293.1
XM_017024805.1 1698 Missense Mutation CGC,TGC R394C XP_016880294.1

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