Product Details

SNP ID
rs200138263
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:39190906 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCTGCCTCATGTGCCCTTGGGG[C/G]TGTTAGCCTTGTTGTACTCATTCAT
Phenotype
MIM: 603493
Polymorphism
C/G, Transversion 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 1848 Missense Mutation ACC,AGC T495S NP_003731.1
XM_005249456.1 1848 Missense Mutation ACC,AGC T492S XP_005249513.1
XM_006715235.2 1848 Missense Mutation ACC,AGC T313S XP_006715298.1

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