Product Details

SNP ID
rs145685896
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49559523 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCAGTGTCTGGTTGTCGAAGTCC[A/G]GAGAGCTCATGCCTGGGAGAAGAGG
Phenotype
MIM: 604527 MIM: 609504
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KCNH3 PubMed Links

Gene Details

Gene
KCNH3
Gene Name
potassium voltage-gated channel subfamily H member 3
There are no transcripts associated with this gene.

Gene
MCRS1
Gene Name
microspherule protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012300.1 1224 Missense Mutation CCG,CTG P352L NP_001012300.1
NM_001278341.1 1224 Missense Mutation CCG,CTG P148L NP_001265270.1
NM_006337.4 1224 Missense Mutation CCG,CTG P339L NP_006328.2
XM_005268572.3 1224 Missense Mutation CCG,CTG P339L XP_005268629.1
XM_011537760.2 1224 Missense Mutation CCG,CTG P390L XP_011536062.1
XM_017018689.1 1224 Missense Mutation CCG,CTG P352L XP_016874178.1
XM_017018690.1 1224 Missense Mutation CCG,CTG P352L XP_016874179.1

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