Product Details

SNP ID
rs200658872
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206327 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCTGCTGGCTGAACCCTTCCAGA[A/C]GGTCCAACACACTCCGCATCCTTTT
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
A/C, Transversion 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 1633 Missense Mutation CAT,CCT H505P NP_001159399.1
NM_001321268.1 1633 Missense Mutation CAT,CCT H312P NP_001308197.1
NM_001321269.1 1633 Silent Mutation CCA,CCC P487P NP_001308198.1
NM_017777.3 1633 Missense Mutation CAT,CCT H515P NP_060247.2
XM_005257485.3 1633 Silent Mutation XP_005257542.1
XM_006721965.2 1633 Silent Mutation XP_006722028.1
XM_011524957.2 1633 Silent Mutation XP_011523259.1
XM_011524958.2 1633 Missense Mutation XP_011523260.1
XM_011524959.2 1633 Missense Mutation XP_011523261.1
XM_011524960.2 1633 Intron XP_011523262.1
XM_017024803.1 1633 Missense Mutation XP_016880292.1
XM_017024804.1 1633 Intron XP_016880293.1
XM_017024805.1 1633 Missense Mutation XP_016880294.1

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