Product Details

SNP ID
hCV11341294
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.1:155291783 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCAATGCCAAATTGCACCCGGC[A/G]ATCTACATCATCTGCCCAGATGGCT
Phenotype
MIM: 609973 MIM: 609712
Polymorphism
A/G, 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 1612 Missense Mutation CGC,TGC R531C NP_000289.1
NM_181871.3 1612 Missense Mutation CGC,TGC R500C NP_870986.1

View Full Product Details