Product Details

SNP ID

rs104894348

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:4912093 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTTCTCCTTCGAGCTGGTGGTG[A/C]GCTTCTTCGCCTGCCCCAGCAAGAC

Phenotype

MIM: 176260

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KCNA1 PubMed Links

Gene Details

Gene

KCNA1

Gene Name

potassium voltage-gated channel subfamily A member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000217.2	1820	Missense Mutation	AGC,CGC	S239R	NP_000208.2

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