Product Details

SNP ID

rs147581794

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:143319836 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGAAGACAGGCTCCAGTTCTACC[A/G]TGGACAGCAAGGATGAGGATCACTA

Phenotype

MIM: 118425

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CLCN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs6962852] 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

CLCN1

Gene Name

chloride voltage-gated channel 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000083.2	207	Missense Mutation	ATG,GTG	M88V	NP_000074.2
XM_011515782.2	207	Intron			XP_011514084.1
XM_017011739.1	207	UTR 5			XP_016867228.1
XM_017011740.1	207	UTR 5			XP_016867229.1

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