Product Details

SNP ID

rs149407148

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:143319815 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCAGGACATAGGGATGCCCAAG[A/G]AGACAGGCTCCAGTTCTACCGTGGA

Phenotype

MIM: 118425

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLCN1 PubMed Links

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	186	Missense Mutation	AAG,GAG	K81E	NP_000074.2
XM_011515782.2	186	Intron			XP_011514084.1
XM_017011739.1	186	UTR 5			XP_016867228.1
XM_017011740.1	186	UTR 5			XP_016867229.1

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