Product Details

SNP ID

hCV11341291

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:155291873 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAAGTGGACCTGGCGGGCAGCCT[A/G]GGCAGAGCGGGTGACAGCAATGACT

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	1522	Nonsense Mutation	CAG,TAG	Q501*	NP_000289.1
NM_181871.3	1522	Nonsense Mutation	CAG,TAG	Q470*	NP_870986.1

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