Product Details

SNP ID
rs201029880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:72622543 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTGCAGAACTACCTGTACAACGT[A/G]CTGGAGAGACCCCGCGGCTGGGCGT
Phenotype
MIM: 607357
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KCNQ5 PubMed Links

Gene Details

Gene
KCNQ5
Gene Name
potassium voltage-gated channel subfamily Q member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160130.1 701 Silent Mutation GTA,GTG V118V NP_001153602.1
NM_001160132.1 701 Silent Mutation GTA,GTG V118V NP_001153604.1
NM_001160133.1 701 Silent Mutation GTA,GTG V118V NP_001153605.1
NM_001160134.1 701 Silent Mutation GTA,GTG V118V NP_001153606.1
NM_019842.3 701 Silent Mutation GTA,GTG V118V NP_062816.2
XM_017011058.1 701 Silent Mutation GTA,GTG V118V XP_016866547.1
Gene
KCNQ5-IT1
Gene Name
KCNQ5 intronic transcript 1
There are no transcripts associated with this gene.

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