Product Details

SNP ID
rs34631184
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206147 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCTTTCCCGGGCCTCCTGCATGC[A/G]GCGCCGGGCTCGACGGAAGGCCTCT
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
A/G, 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 1701 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 1701 Missense Mutation CGC,TGC R528C NP_001159399.1
NM_001321268.1 1701 Missense Mutation CGC,TGC R335C NP_001308197.1
NM_001321269.1 1701 Missense Mutation CCG,CTG P510L NP_001308198.1
NM_017777.3 1701 Missense Mutation CGC,TGC R538C NP_060247.2
XM_005257485.3 1701 Missense Mutation CCG,CTG P367L XP_005257542.1
XM_006721965.2 1701 Missense Mutation CCG,CTG P307L XP_006722028.1
XM_011524957.2 1701 Missense Mutation CCG,CTG P513L XP_011523259.1
XM_011524958.2 1701 Missense Mutation CGC,TGC R541C XP_011523260.1
XM_011524959.2 1701 UTR 3 XP_011523261.1
XM_011524960.2 1701 Intron XP_011523262.1
XM_017024803.1 1701 UTR 3 XP_016880292.1
XM_017024804.1 1701 Intron XP_016880293.1
XM_017024805.1 1701 Missense Mutation CGC,TGC R395C XP_016880294.1

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