Product Details

SNP ID
rs181513926
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206541 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCGGAGTCCAAAGCGGCTCAGGC[A/G]TTCCCCCTGTGGCATGCCATTGGGA
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
There are no transcripts associated with this gene.

Gene
MKS1
Gene Name
Meckel syndrome, type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165927.1 1503 Missense Mutation NP_001159399.1
NM_001321268.1 1503 Missense Mutation NP_001308197.1
NM_001321269.1 1503 Intron NP_001308198.1
NM_017777.3 1503 Missense Mutation NP_060247.2
XM_005257485.3 1503 Intron XP_005257542.1
XM_006721965.2 1503 Intron XP_006722028.1
XM_011524957.2 1503 Intron XP_011523259.1
XM_011524958.2 1503 Missense Mutation XP_011523260.1
XM_011524959.2 1503 Intron XP_011523261.1
XM_011524960.2 1503 Intron XP_011523262.1
XM_017024803.1 1503 Intron XP_016880292.1
XM_017024804.1 1503 Intron XP_016880293.1
XM_017024805.1 1503 Missense Mutation XP_016880294.1

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