Product Details

SNP ID

rs202229360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49558715 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCCTGGTTGATAAGGAAGACGAA[C/T]CGCAGGCTGGCGATCTGGGTGGGAG

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	1525	Intron			NP_001300959.1
NM_012284.2	1525	Intron			NP_036416.1
XM_011538085.2	1525	Intron			XP_011536387.1
XM_011538086.2	1525	Intron			XP_011536388.1
XM_017019096.1	1525	Intron			XP_016874585.1
XM_017019097.1	1525	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	1525	Silent Mutation	CGA,CGG	R452R	NP_001012300.1
NM_001278341.1	1525	Silent Mutation	CGA,CGG	R248R	NP_001265270.1
NM_006337.4	1525	Silent Mutation	CGA,CGG	R439R	NP_006328.2
XM_005268572.3	1525	Silent Mutation	CGA,CGG	R439R	XP_005268629.1
XM_011537760.2	1525	Silent Mutation	CGA,CGG	R490R	XP_011536062.1
XM_017018689.1	1525	Silent Mutation	CGA,CGG	R452R	XP_016874178.1
XM_017018690.1	1525	Silent Mutation	CGA,CGG	R452R	XP_016874179.1

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