Product Details

SNP ID

rs138573996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:39315040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTCTTGGATATGGGGAAGTCCT[A/G]GGGTGTGACTTGGACTCCTCTTGCT

Phenotype

MIM: 607369 MIM: 607370

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCNK16 PubMed Links

Gene Details

Gene

KCNK16

Gene Name

potassium two pore domain channel subfamily K member 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135105.1	821	UTR 3			NP_001128577.1
NM_001135106.1	821	Intron			NP_001128578.1
NM_001135107.1	821	Nonsense Mutation	CAG,TAG	Q251*	NP_001128579.1
NM_032115.3	821	Nonsense Mutation	CAG,TAG	Q298*	NP_115491.1
XM_011514935.2	821	Nonsense Mutation	CAG,TAG	Q186*	XP_011513237.1
XM_017011346.1	821	Nonsense Mutation	CAG,TAG	Q251*	XP_016866835.1

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	821	Intron			NP_001128583.1
NM_031460.3	821	Intron			NP_113648.2

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