Product Details

SNP ID
rs147790685
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49558667 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCACTGTGGTGTGATCTTGGCAGC[C/T]TCAGCCCTGATGAGGGCAATGAGGT
Phenotype
MIM: 604527 MIM: 609504
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KCNH3 PubMed Links

Gene Details

Gene
KCNH3
Gene Name
potassium voltage-gated channel subfamily H member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001314030.1 1573 Intron NP_001300959.1
NM_012284.2 1573 Intron NP_036416.1
XM_011538085.2 1573 Intron XP_011536387.1
XM_011538086.2 1573 Intron XP_011536388.1
XM_017019096.1 1573 Intron XP_016874585.1
XM_017019097.1 1573 Intron XP_016874586.1
Gene
MCRS1
Gene Name
microspherule protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012300.1 1573 Silent Mutation GAA,GAG E468E NP_001012300.1
NM_001278341.1 1573 Silent Mutation GAA,GAG E264E NP_001265270.1
NM_006337.4 1573 Silent Mutation GAA,GAG E455E NP_006328.2
XM_005268572.3 1573 Silent Mutation GAA,GAG E455E XP_005268629.1
XM_011537760.2 1573 Silent Mutation GAA,GAG E506E XP_011536062.1
XM_017018689.1 1573 Silent Mutation GAA,GAG E468E XP_016874178.1
XM_017018690.1 1573 Silent Mutation GAA,GAG E468E XP_016874179.1

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