Product Details

SNP ID
rs35384582
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAAGACGAAGAGGCAGGAGAGCA[C/G]TGGCCTCAGATATCCCCCATCTTGT
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 1827 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 1827 UTR 3 NP_001159399.1
NM_001321268.1 1827 UTR 3 NP_001308197.1
NM_001321269.1 1827 Missense Mutation ACT,AGT T552S NP_001308198.1
NM_017777.3 1827 UTR 3 NP_060247.2
XM_005257485.3 1827 Missense Mutation ACT,AGT T409S XP_005257542.1
XM_006721965.2 1827 Missense Mutation ACT,AGT T349S XP_006722028.1
XM_011524957.2 1827 Missense Mutation ACT,AGT T555S XP_011523259.1
XM_011524958.2 1827 UTR 3 XP_011523260.1
XM_011524959.2 1827 UTR 3 XP_011523261.1
XM_011524960.2 1827 Intron XP_011523262.1
XM_017024803.1 1827 UTR 3 XP_016880292.1
XM_017024804.1 1827 Intron XP_016880293.1
XM_017024805.1 1827 UTR 3 XP_016880294.1

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