Product Details

SNP ID

rs77281462

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:5044781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCTGGGGGACGAGGCCATGGAG[C/T]GCTTCCGCGAGGATGAGGGCTTCAT

Phenotype

MIM: 176267

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KCNA5 PubMed Links

Gene Details

Gene

KCNA5

Gene Name

potassium voltage-gated channel subfamily A member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002234.3	863	Missense Mutation	CGC,TGC	R212C	NP_002225.2

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