Product Details

SNP ID

rs200587228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:62707633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGATTTGGGAGATGAGGCCTGGG[A/G]TACGCTTTTTTCCGACAGTATTTTT

Phenotype

MIM: 605716

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCNH5 PubMed Links

Gene Details

Gene

KCNH5

Gene Name

potassium voltage-gated channel subfamily H member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139318.4	2697	Missense Mutation	CCC,TCC	P948S	NP_647479.2
NM_172375.2	2697	UTR 3			NP_758963.1

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