Product Details

SNP ID

rs144204029

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:26693089 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCGTCGTGCTGCGCCTCAAGCCG[C/G]ACAAGGCCGGCGTGCAGTGGCGCTT

Phenotype

MIM: 603220

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KCNK3 PubMed Links

Gene Details

Gene

KCNK3

Gene Name

potassium two pore domain channel subfamily K member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002246.2	377	Missense Mutation	CAC,GAC	H72D	NP_002237.1
XM_005264293.2	377	Intron			XP_005264350.1

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