Product Details

SNP ID
rs199472680
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:2445454 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACAACTTCCTCGAGCGTCCCACCG[A/G]CTGGAAATGCTTCGTTTACCACTTC
Phenotype
MIM: 607542
Polymorphism
A/G, 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_000218.2 464 Missense Mutation GAC,GGC D119G NP_000209.2
NM_181798.1 464 Intron NP_861463.1

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