Product Details

SNP ID

rs201509501

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:143320675 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCTCTTCCTAGATTGTATCCAC[C/T]GCCTGGGACAGGTGGTGAGAAGAAA

Phenotype

MIM: 118425

Polymorphism

C/T, 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	258	Missense Mutation	CGC,TGC	R105C	NP_000074.2
XM_011515782.2	258	Intron			XP_011514084.1
XM_017011739.1	258	Missense Mutation	CCG,CTG	P7L	XP_016867228.1
XM_017011740.1	258	Missense Mutation	CCG,CTG	P7L	XP_016867229.1

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