Product Details

SNP ID
rs143558851
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:39190985 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTCAGTGCTGGTGAAGGTGGACT[C/T]GGAGGAGGAGGGGAACTCGCCCATG
Phenotype
MIM: 603493
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KCNK5 PubMed Links

Gene Details

Gene
KCNK5
Gene Name
potassium two pore domain channel subfamily K member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003740.3 1769 Missense Mutation AAG,GAG K469E NP_003731.1
XM_005249456.1 1769 Missense Mutation AAG,GAG K466E XP_005249513.1
XM_006715235.2 1769 Missense Mutation AAG,GAG K287E XP_006715298.1

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