Product Details

SNP ID
rs200026560
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206531 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGGTCTCTGTGCGGAGTCCAAAG[C/T]GGCTCAGGCGTTCCCCCTGTGGCAT
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 1513 Missense Mutation CAC,CGC H465R NP_001159399.1
NM_001321268.1 1513 Missense Mutation CAC,CGC H272R NP_001308197.1
NM_001321269.1 1513 Intron NP_001308198.1
NM_017777.3 1513 Missense Mutation CAC,CGC H475R NP_060247.2
XM_005257485.3 1513 Intron XP_005257542.1
XM_006721965.2 1513 Intron XP_006722028.1
XM_011524957.2 1513 Intron XP_011523259.1
XM_011524958.2 1513 Missense Mutation CAC,CGC H478R XP_011523260.1
XM_011524959.2 1513 Intron XP_011523261.1
XM_011524960.2 1513 Intron XP_011523262.1
XM_017024803.1 1513 Intron XP_016880292.1
XM_017024804.1 1513 Intron XP_016880293.1
XM_017024805.1 1513 Missense Mutation CAC,CGC H332R XP_016880294.1

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