Product Details

SNP ID

rs140923370

Assay Type

Functionally Tested

NCBI dbSNP Submissions

4

Location

Chr.1:16044577 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTGGGGCCCCTGTCCCCGCATC[C/T]GCCGAGGCATCCGAGGTGAGAGCCA

Phenotype

MIM: 602023

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CLCNKB PubMed Links

Additional Information

For this assay, SNP(s) [rs2015352] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	237	Missense Mutation	CGC,TGC	R29C	NP_000076.2
NM_001165945.2	237	Intron			NP_001159417.2

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