Product Details

SNP ID
rs113403872
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:155291845 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGTAAAGCAAGGGGAAGACTCCT[C/T]GGCATAAGTGGACCTGGCGGGCAGC
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 1505 Missense Mutation CAA,CGA Q510R NP_000289.1
NM_181871.3 1505 Missense Mutation CAA,CGA Q479R NP_870986.1
XM_006711386.3 1505 Missense Mutation CAA,CGA Q446R XP_006711449.1
XM_011509640.2 1505 Missense Mutation CAA,CGA Q446R XP_011507942.1
XM_017001493.1 1505 Intron XP_016856982.1

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