Product Details

SNP ID
rs200108556
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42162289 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACCTTTTCCTTCACCTCCTCAG[C/T]CTCACTGGCCAATTCTGGGCTGGGC
Phenotype
MIM: 604528 MIM: 604037
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KCNH4 PubMed Links

Gene Details

Gene
KCNH4
Gene Name
potassium voltage-gated channel subfamily H member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012285.2 2950 Missense Mutation ACT,GCT T873A NP_036417.1
XM_017024400.1 2950 Missense Mutation ACT,GCT T873A XP_016879889.1
XM_017024401.1 2950 Missense Mutation ACT,GCT T824A XP_016879890.1
XM_017024402.1 2950 Missense Mutation ACT,GCT T813A XP_016879891.1
XM_017024403.1 2950 Intron XP_016879892.1
Gene
RAB5C
Gene Name
RAB5C, member RAS oncogene family
There are no transcripts associated with this gene.

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