Product Details

SNP ID

rs199831015

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:11806337 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCGGTGAGCGTGAGACCCGCAC[A/C]CCCGAGGAGCTGGTAAGAAGCCGGC

Phenotype

MIM: 602726 MIM: 607093

Polymorphism

A/C, Transversion 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	242	Silent Mutation	ACA,ACC	T25T	NP_001243888.1
NM_001286.3	242	Silent Mutation	ACA,ACC	T25T	NP_001277.1

Gene

MTHFR

Gene Name

methylenetetrahydrofolate reductase (NAD(P)H)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005957.4	242	Intron			NP_005948.3
XM_005263458.3	242	Intron			XP_005263515.1
XM_005263460.4	242	Intron			XP_005263517.1
XM_005263462.4	242	Intron			XP_005263519.1
XM_005263463.3	242	Intron			XP_005263520.1
XM_011541495.2	242	Intron			XP_011539797.1
XM_011541496.2	242	Intron			XP_011539798.1
XM_017001328.1	242	Intron			XP_016856817.1

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