Product Details

SNP ID: rs200667279
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:45261938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCAGGGATCATAAATTTGAAGCAA[A/C]TCGTGGCTTTTCTGCGTCTGGGTCT
Phenotype: MIM: 602780
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: HCN1 PubMed Links

Gene Details

Gene: HCN1
Gene Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021072.3	2681	Missense Mutation	GTT,TTT	V886F	NP_066550.2