Product Details

SNP ID

rs199473443

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2445117 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCGTTATGGCCGCGGCCTCCTCC[C/T]CGCCCAGGGCCGAGAGGAAGCGCTG

Phenotype

MIM: 607542

Polymorphism

C/T, Transition 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	127	Missense Mutation	CCG,TCG	P7S	NP_000209.2
NM_181798.1	127	Intron			NP_861463.1

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