Product Details

SNP ID

rs34851419

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:16044504 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCAGGGGCCTGATGGAGGAGTT[G/T]GTGGGGCTGCGTGAAGGCTCCTCAG

Phenotype

MIM: 602023

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CLCNKB PubMed Links

Gene Details

Gene

CLCNKB

Gene Name

chloride voltage-gated channel Kb

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000085.4	164	Missense Mutation	TTG,TTT	L4F	NP_000076.2
NM_001165945.2	164	Intron			NP_001159417.2

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