Product Details

SNP ID

rs377205432

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:128839289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCTAAAGTTATGGAAATCCACTC[A/G]GTATTTCCCTTCCTTTGTCTTGGAT

Phenotype

MIM: 600359

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCNJ1 PubMed Links

Gene Details

Gene

KCNJ1

Gene Name

potassium voltage-gated channel subfamily J member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000220.4	1347	Nonsense Mutation	CGA,TGA	R338*	NP_000211.1
NM_153764.2	1347	Nonsense Mutation	CGA,TGA	R319*	NP_722448.1
NM_153765.2	1347	Nonsense Mutation	CGA,TGA	R336*	NP_722449.3
NM_153766.2	1347	Nonsense Mutation	CGA,TGA	R319*	NP_722450.1
NM_153767.3	1347	Nonsense Mutation	CGA,TGA	R319*	NP_722451.1

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