Product Details

SNP ID
rs199910690
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206158 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTCCTGCATGCGGCGCCGGGCT[C/T]GACGGAAGGCCTCTGTAAGGAAAGG
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000502.5 1690 Intron NP_000493.1
Gene
MKS1
Gene Name
Meckel syndrome, type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165927.1 1690 Missense Mutation CAA,CGA Q524R NP_001159399.1
NM_001321268.1 1690 Missense Mutation CAA,CGA Q331R NP_001308197.1
NM_001321269.1 1690 Silent Mutation TCA,TCG S506S NP_001308198.1
NM_017777.3 1690 Missense Mutation CAA,CGA Q534R NP_060247.2
XM_005257485.3 1690 Silent Mutation TCA,TCG S363S XP_005257542.1
XM_006721965.2 1690 Silent Mutation TCA,TCG S303S XP_006722028.1
XM_011524957.2 1690 Silent Mutation TCA,TCG S509S XP_011523259.1
XM_011524958.2 1690 Missense Mutation CAA,CGA Q537R XP_011523260.1
XM_011524959.2 1690 UTR 3 XP_011523261.1
XM_011524960.2 1690 Intron XP_011523262.1
XM_017024803.1 1690 UTR 3 XP_016880292.1
XM_017024804.1 1690 Intron XP_016880293.1
XM_017024805.1 1690 Missense Mutation CAA,CGA Q391R XP_016880294.1

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