Product Details

SNP ID

rs143189186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:2717755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGCAGCCATGCTCAAACAGAGT[C/G]AGAGGAGACGGTCCTGGAGCTACAG

Phenotype

MIM: 607604

Polymorphism

C/G, Transversion 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	230	Missense Mutation	CAG,GAG	Q6E	NP_598004.1

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