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SNP ID

rs199473650

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:70175200 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTTTGTGAAGAAAGATGGCCACT[G/T]TAATGTTCAGTTCATCAATGTGGGT

Phenotype

MIM: 600681

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KCNJ2 PubMed Links

Gene Details

Gene

KCNJ2

Gene Name

potassium voltage-gated channel subfamily J member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000891.2	544	Missense Mutation	TGT,TTT	C54F	NP_000882.1

Gene

KCNJ2-AS1

Gene Name

KCNJ2 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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