Product Details

SNP ID
rs138654048
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:110211790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGGGCTGCGAGTTCTTCTTCGA[A/C]AGGCACCCGGGCGTCTTCGCCTACG
Phenotype
MIM: 176265 MIM: 610299
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KCNC4 PubMed Links

Gene Details

Gene
KCNC4
Gene Name
potassium voltage-gated channel subfamily C member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039574.2 921 Missense Mutation GAA,GAC E97D NP_001034663.1
NM_004978.4 921 Missense Mutation GAA,GAC E97D NP_004969.2
XM_006710625.3 921 Missense Mutation GAA,GAC E97D XP_006710688.1
XM_006710627.3 921 Missense Mutation GAA,GAC E97D XP_006710690.1
XM_011541401.2 921 Missense Mutation GAA,GAC E97D XP_011539703.1
XM_011541402.1 921 Missense Mutation GAA,GAC E97D XP_011539704.1
XM_011541403.1 921 Missense Mutation GAA,GAC E97D XP_011539705.1
XM_011541404.1 921 Missense Mutation GAA,GAC E97D XP_011539706.1
Gene
KCNC4-AS1
Gene Name
KCNC4 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

Gene
SLC6A17
Gene Name
solute carrier family 6 member 17
There are no transcripts associated with this gene.

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