Product Details

SNP ID
rs77130610
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:11806300 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGGGTCTCTGTGCTGCTGCTGCA[A/G]GTGGTGCTGCTGCTGCGGTGAGCGT
Phenotype
MIM: 602726 MIM: 607093
Polymorphism
A/G, 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_001256959.1 205 Missense Mutation AAG,AGG K13R NP_001243888.1
NM_001286.3 205 Missense Mutation AAG,AGG K13R 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_005957.4 205 Intron NP_005948.3
XM_005263458.3 205 Intron XP_005263515.1
XM_005263460.4 205 Intron XP_005263517.1
XM_005263462.4 205 Intron XP_005263519.1
XM_005263463.3 205 Intron XP_005263520.1
XM_011541495.2 205 Intron XP_011539797.1
XM_011541496.2 205 Intron XP_011539798.1
XM_017001328.1 205 Intron XP_016856817.1

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