Product Details

SNP ID
rs8177988
Assay Type
Functionally tested
NCBI dbSNP Submissions
24
Location
Chr.1:155291858 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAAGACTCCTCGGCATAAGTGGA[C/T]CTGGCGGGCAGCCTGGGCAGAGCGG
Phenotype
MIM: 609973 MIM: 609712
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HCN3 PubMed Links

Gene Details

Gene
HCN3
Gene Name
hyperpolarization activated cyclic nucleotide gated potassium channel 3
There are no transcripts associated with this gene.

Gene
PKLR
Gene Name
pyruvate kinase, liver and RBC
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000298.5 1492 Missense Mutation ATC,GTC I506V NP_000289.1
NM_181871.3 1492 Missense Mutation ATC,GTC I475V NP_870986.1
XM_006711386.3 1492 Missense Mutation ATC,GTC I442V XP_006711449.1
XM_011509640.2 1492 Missense Mutation ATC,GTC I442V XP_011507942.1
XM_017001493.1 1492 Intron XP_016856982.1

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