Product Details

SNP ID
rs111315726
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206519 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGACAGTGCCTGTGGTCTCTGTG[C/T]GGAGTCCAAAGCGGCTCAGGCGTTC
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 1525 Missense Mutation CAC,CGC H469R NP_001159399.1
NM_001321268.1 1525 Missense Mutation CAC,CGC H276R NP_001308197.1
NM_001321269.1 1525 Intron NP_001308198.1
NM_017777.3 1525 Missense Mutation CAC,CGC H479R NP_060247.2
XM_005257485.3 1525 Intron XP_005257542.1
XM_006721965.2 1525 Intron XP_006722028.1
XM_011524957.2 1525 Intron XP_011523259.1
XM_011524958.2 1525 Missense Mutation CAC,CGC H482R XP_011523260.1
XM_011524959.2 1525 Intron XP_011523261.1
XM_011524960.2 1525 Intron XP_011523262.1
XM_017024803.1 1525 Intron XP_016880292.1
XM_017024804.1 1525 Intron XP_016880293.1
XM_017024805.1 1525 Missense Mutation CAC,CGC H336R XP_016880294.1

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