Product Details

SNP ID
rs1046005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:10913573 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACATCTACCCCAAGACCACGCTG[A/G]GCAAGCTCAACGCGGCCATCAGCTT
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 1637 Missense Mutation AGC,GGC S383G NP_002227.2

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