Product Details

SNP ID

rs138601922

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63524223 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGGCTTCTGCGAACTCTTCGGCT[A/G]CTCCCGAGTGGAGGTGATGCAGCAA

Phenotype

MIM: 608168

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCNH6 PubMed Links

Gene Details

Gene

KCNH6

Gene Name

potassium voltage-gated channel subfamily H member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278919.1	241	Missense Mutation	TAC,TGC	Y54C	NP_001265848.1
NM_001278920.1	241	UTR 5			NP_001265849.1
NM_030779.3	241	Missense Mutation	TAC,TGC	Y54C	NP_110406.1
NM_173092.2	241	Missense Mutation	TAC,TGC	Y54C	NP_775115.1
XM_011525308.2	241	Missense Mutation	TAC,TGC	Y54C	XP_011523610.1
XM_011525309.2	241	Missense Mutation	TAC,TGC	Y54C	XP_011523611.1
XM_011525310.2	241	Missense Mutation	TAC,TGC	Y54C	XP_011523612.1
XM_011525311.1	241	Missense Mutation	TAC,TGC	Y54C	XP_011523613.1
XM_011525312.1	241	Missense Mutation	TAC,TGC	Y54C	XP_011523614.1
XM_011525313.1	241	Missense Mutation	TAC,TGC	Y54C	XP_011523615.1
XM_017025175.1	241	Missense Mutation	TAC,TGC	Y54C	XP_016880664.1
XM_017025176.1	241	Missense Mutation	TAC,TGC	Y54C	XP_016880665.1
XM_017025177.1	241	Missense Mutation	TAC,TGC	Y54C	XP_016880666.1
XM_017025178.1	241	Missense Mutation	TAC,TGC	Y54C	XP_016880667.1
XM_017025179.1	241	Missense Mutation	TAC,TGC	Y54C	XP_016880668.1
XM_017025180.1	241	UTR 5			XP_016880669.1

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