Product Details

SNP ID
rs115121445
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206874 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGGAACCAGGGGAAATCTCTAAT[C/T]ATACTATTTTCCAGAGACCTCCTAC
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 Intron NP_001159399.1
NM_001321268.1 Intron NP_001308197.1
NM_001321269.1 Intron NP_001308198.1
NM_017777.3 Intron NP_060247.2
XM_005257485.3 Intron XP_005257542.1
XM_006721965.2 Intron XP_006722028.1
XM_011524957.2 Intron XP_011523259.1
XM_011524958.2 Intron XP_011523260.1
XM_011524959.2 Intron XP_011523261.1
XM_011524960.2 Intron XP_011523262.1
XM_017024803.1 Intron XP_016880292.1
XM_017024804.1 Intron XP_016880293.1
XM_017024805.1 Intron XP_016880294.1

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