Product Details

SNP ID

rs200133000

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:155291906 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGTGACAGCAATGACTGCTGCCC[A/G]AGGTCGGTACCGAGACAGAAGCTGG

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	1444	Missense Mutation	CGG,TGG	R490W	NP_000289.1
NM_181871.3	1444	Missense Mutation	CGG,TGG	R459W	NP_870986.1
XM_006711386.3	1444	Missense Mutation	CGG,TGG	R426W	XP_006711449.1
XM_011509640.2	1444	Missense Mutation	CGG,TGG	R426W	XP_011507942.1
XM_017001493.1	1444	Intron			XP_016856982.1

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