Product Details

SNP ID
rs139697667
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:215575903 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAACTGTTCTCTTTTTTACAGAT[A/C]TTTATTGATAGAGATCCAGCAGCAT
Phenotype
MIM: 613272
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KCTD3 PubMed Links

Gene Details

Gene
KCTD3
Gene Name
potassium channel tetramerization domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319294.1 687 Silent Mutation ATA,ATC I62I NP_001306223.1
NM_001319295.1 687 UTR 5 NP_001306224.1
NM_016121.4 687 Silent Mutation ATA,ATC I62I NP_057205.2
XM_005273158.1 687 UTR 5 XP_005273215.1

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