Product Details

SNP ID
rs143415219
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:78017022 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCTTGACCAAAGGCTTGATTTC[A/G]TAGAACTGAGCCTCACGGTACACTT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KCTD14 PubMed Links

Gene Details

Gene
KCTD14
Gene Name
potassium channel tetramerization domain containing 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282406.1 985 Silent Mutation TAC,TAT Y83Y NP_001269335.1
NM_023930.3 985 Silent Mutation TAC,TAT Y113Y NP_076419.2
Gene
NDUFC2-KCTD14
Gene Name
NDUFC2-KCTD14 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001203260.1 985 UTR 3 NP_001190189.1
NM_001203261.1 985 UTR 3 NP_001190190.1
NM_001203262.1 985 UTR 3 NP_001190191.1

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