Product Details

SNP ID

rs199473445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2445268 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCTCTACGCGCCCATCGCGCCCG[G/T]CGCCCCAGGTCCCGCGCCCCCTGCG

Phenotype

MIM: 607542

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KCNQ1 PubMed Links

Gene Details

Gene

KCNQ1

Gene Name

potassium voltage-gated channel subfamily Q member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000218.2	278	Missense Mutation	GGC,GTC	G57V	NP_000209.2
NM_181798.1	278	Intron			NP_861463.1

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