Product Details

SNP ID
rs112810682
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:21220054 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAATTGGAGAGGGAGCCGATGAC[C/T]CGGAAGCGAGAGGGGCTGTGGGGAT
Phenotype
MIM: 600423
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ECE1 PubMed Links

Gene Details

Gene
ECE1
Gene Name
endothelin converting enzyme 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113347.1 2434 Silent Mutation CGA,CGG R726R NP_001106818.1
NM_001113348.1 2434 Silent Mutation CGA,CGG R722R NP_001106819.1
NM_001113349.1 2434 Silent Mutation CGA,CGG R735R NP_001106820.1
NM_001397.2 2434 Silent Mutation CGA,CGG R738R NP_001388.1
XM_006710398.2 2434 Silent Mutation CGA,CGG R721R XP_006710461.1
XM_011540872.2 2434 Silent Mutation CGA,CGG R746R XP_011539174.1
XM_011540873.2 2434 Silent Mutation CGA,CGG R721R XP_011539175.1
XM_017000511.1 2434 Silent Mutation CGA,CGG R721R XP_016856000.1

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