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SNP ID

rs12122443

Assay Type

Functionally tested

NCBI dbSNP Submissions

25

Location

Chr.1:11810184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCTAAAAAGTGCCCCTTCTTCC[C/T]GTCTCAGGAAGAGTTCATTGCACAT

Phenotype

MIM: 602726 MIM: 607093

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLCN6 PubMed Links

Gene Details

Gene

CLCN6

Gene Name

chloride voltage-gated channel 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256959.1		Intron			NP_001243888.1
NM_001286.3		Intron			NP_001277.1

Gene

MTHFR

Gene Name

methylenetetrahydrofolate reductase (NAD(P)H)

There are no transcripts associated with this gene.

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