Product Details

SNP ID
rs144635826
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTCTGAAGGGAGCTCGATTCCA[C/T]GAAGGCCCTGCAGGGAGGCCAGCCA
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
C/T, 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 1587 Missense Mutation ATG,GTG M490V NP_001159399.1
NM_001321268.1 1587 Missense Mutation ATG,GTG M297V NP_001308197.1
NM_001321269.1 1587 Missense Mutation CAT,CGT H472R NP_001308198.1
NM_017777.3 1587 Missense Mutation ATG,GTG M500V NP_060247.2
XM_005257485.3 1587 Missense Mutation CAT,CGT H329R XP_005257542.1
XM_006721965.2 1587 Missense Mutation CAT,CGT H269R XP_006722028.1
XM_011524957.2 1587 Missense Mutation CAT,CGT H475R XP_011523259.1
XM_011524958.2 1587 Missense Mutation ATG,GTG M503V XP_011523260.1
XM_011524959.2 1587 Silent Mutation TCA,TCG S430S XP_011523261.1
XM_011524960.2 1587 Intron XP_011523262.1
XM_017024803.1 1587 Silent Mutation TCA,TCG S427S XP_016880292.1
XM_017024804.1 1587 Intron XP_016880293.1
XM_017024805.1 1587 Missense Mutation ATG,GTG M357V XP_016880294.1

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