Product Details

SNP ID

rs200559511

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17736130 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGCTGGCGGAGCCCGACGCCC[A/C]CAGCCACTTCGACTATGACCCGCGT

Phenotype

MIM: 176258

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KCNC1 PubMed Links

Gene Details

Gene

KCNC1

Gene Name

potassium voltage-gated channel subfamily C member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001112741.1	183	Missense Mutation	CAC,CCC	H43P	NP_001106212.1
NM_004976.4	183	Missense Mutation	CAC,CCC	H43P	NP_004967.1
XM_011520080.2	183	Missense Mutation	CAC,CCC	H43P	XP_011518382.1

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