Product Details

SNP ID

rs147777200

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:10913075 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGCTGGACGCCGAGGGCAACCGC[A/G]TGGAGCACCCGACGCTGGAGAACGT

Phenotype

MIM: 603787

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCNF1 PubMed Links

Gene Details

Gene

KCNF1

Gene Name

potassium voltage-gated channel modifier subfamily F member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002236.4	1139	Missense Mutation	ATG,GTG	M217V	NP_002227.2

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