Product Details

SNP ID

rs74481522

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17736321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCGACGTGGAGCCCTGCTGCTGG[A/C]TGACGTACCGCCAGCACCGCGACGC

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	374	Missense Mutation	ATG,CTG	M107L	NP_001106212.1
NM_004976.4	374	Missense Mutation	ATG,CTG	M107L	NP_004967.1
XM_011520080.2	374	Missense Mutation	ATG,CTG	M107L	XP_011518382.1

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