Product Details

SNP ID
rs141329225
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42160141 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGAGGGTCCCAGAGGGTCAGGCT[C/G]TGAGGGGTAGGGGGGCAATATGGAA
Phenotype
MIM: 604528 MIM: 604037
Polymorphism
C/G, Transversion 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 3286 Missense Mutation CAG,GAG Q985E NP_036417.1
XM_017024400.1 3286 Missense Mutation CAG,GAG Q985E XP_016879889.1
XM_017024401.1 3286 Missense Mutation CAG,GAG Q936E XP_016879890.1
XM_017024402.1 3286 Missense Mutation CAG,GAG Q925E XP_016879891.1
XM_017024403.1 3286 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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