Product Details

SNP ID

rs200640848

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:155284620 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTGCATTGGCTATGGGCAGCAG[G/T]CACCTGTAGGCATGCCCGACGTCTG

Phenotype

MIM: 609973 MIM: 609712

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HCN3 PubMed Links

Gene Details

Gene

HCN3

Gene Name

hyperpolarization activated cyclic nucleotide gated potassium channel 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020897.2	328	Missense Mutation	GCA,TCA	A318S	NP_065948.1
XM_011509816.2	328	Missense Mutation	GCA,TCA	A271S	XP_011508118.1
XM_011509817.2	328	Missense Mutation	GCA,TCA	A264S	XP_011508119.1
XM_011509818.2	328	Missense Mutation	GCA,TCA	A79S	XP_011508120.1
XM_017001918.1	328	Missense Mutation	GCA,TCA	A79S	XP_016857407.1

Gene

PKLR

Gene Name

pyruvate kinase, liver and RBC

There are no transcripts associated with this gene.

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