Product Details

SNP ID
rs34224064
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58205945 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGGCTAGGCAGAGGGGCCAGCC[A/G]GGAATTTCCCAGCTTTTCTGGTTCT
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 1903 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 1903 UTR 3 NP_001159399.1
NM_001321268.1 1903 UTR 3 NP_001308197.1
NM_001321269.1 1903 UTR 3 NP_001308198.1
NM_017777.3 1903 UTR 3 NP_060247.2
XM_005257485.3 1903 UTR 3 XP_005257542.1
XM_006721965.2 1903 UTR 3 XP_006722028.1
XM_011524957.2 1903 UTR 3 XP_011523259.1
XM_011524958.2 1903 UTR 3 XP_011523260.1
XM_011524959.2 1903 UTR 3 XP_011523261.1
XM_011524960.2 1903 Intron XP_011523262.1
XM_017024803.1 1903 UTR 3 XP_016880292.1
XM_017024804.1 1903 Intron XP_016880293.1
XM_017024805.1 1903 UTR 3 XP_016880294.1

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