Product Details

SNP ID
rs140376920
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48962750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGATAATGGCAGCCACGAAGTCC[C/T]GGCTGTCGCAGTTCAGGTCAAGGCT
Phenotype
MIM: 300281 MIM: 300713
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
KCND1 PubMed Links

Gene Details

Gene
KCND1
Gene Name
potassium voltage-gated channel subfamily D member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004979.5 2087 Missense Mutation CAG,CGG Q592R NP_004970.3
XM_011543910.2 2087 Missense Mutation CAG,CGG Q592R XP_011542212.1
XM_017029508.1 2087 Missense Mutation CAG,CGG Q503R XP_016884997.1
XM_017029509.1 2087 Missense Mutation CAG,CGG Q503R XP_016884998.1
XM_017029510.1 2087 Intron XP_016884999.1
Gene
OTUD5
Gene Name
OTU deubiquitinase 5
There are no transcripts associated with this gene.

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