Product Details

SNP ID
rs11548967
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58206088 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGGCTGCTGTGAGCTAGGAGAC[C/G]AGGGTTCCAGAGGGGCTCACTAGGT
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
C/G, Transversion 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 1760 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 1760 Silent Mutation CTC,CTG L547L NP_001159399.1
NM_001321268.1 1760 Silent Mutation CTC,CTG L354L NP_001308197.1
NM_001321269.1 1760 Missense Mutation CGT,GGT R530G NP_001308198.1
NM_017777.3 1760 Silent Mutation CTC,CTG L557L NP_060247.2
XM_005257485.3 1760 Missense Mutation CGT,GGT R387G XP_005257542.1
XM_006721965.2 1760 Missense Mutation CGT,GGT R327G XP_006722028.1
XM_011524957.2 1760 Missense Mutation CGT,GGT R533G XP_011523259.1
XM_011524958.2 1760 Silent Mutation CTC,CTG L560L XP_011523260.1
XM_011524959.2 1760 UTR 3 XP_011523261.1
XM_011524960.2 1760 Intron XP_011523262.1
XM_017024803.1 1760 UTR 3 XP_016880292.1
XM_017024804.1 1760 Intron XP_016880293.1
XM_017024805.1 1760 Silent Mutation CTC,CTG L414L XP_016880294.1

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