Product Details

SNP ID

rs138656434

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:2717899 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGACAGAGGGCAACTATAACTAC[C/T]ACATCGAGGAAGACGAAGACGGCGA

Phenotype

MIM: 607604

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KCNV2 PubMed Links

Gene Details

Gene

KCNV2

Gene Name

potassium voltage-gated channel modifier subfamily V member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133497.3	374	Missense Mutation	CAC,TAC	H54Y	NP_598004.1

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