Product Details

SNP ID

rs142895740

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:39299491 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAGATGCTGTATGATTCCCATG[G/T]GTCCCTCTGGATAGCATCCTTGCTG

Phenotype

MIM: 607370

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KCNK17 PubMed Links

Gene Details

Gene

KCNK17

Gene Name

potassium two pore domain channel subfamily K member 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135111.1	1227	UTR 3			NP_001128583.1
NM_031460.3	1227	Missense Mutation	CAC,CCC	H312P	NP_113648.2

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