Product Details

SNP ID
rs138133378
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:166405633 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTAGCTTTGTCAAAATAGGCAC[C/T]TTCTTTAGTAGCATGAACATCTCTG
Phenotype
MIM: 182392
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SCN7A PubMed Links

Gene Details

Gene
SCN7A
Gene Name
sodium voltage-gated channel alpha subunit 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002976.3 5420 Missense Mutation AGT,GGT S1666G NP_002967.2
XM_006712680.2 5420 Missense Mutation AGT,GGT S1666G XP_006712743.1
XM_006712681.3 5420 Missense Mutation AGT,GGT S1666G XP_006712744.1
XM_006712682.3 5420 Missense Mutation AGT,GGT S1666G XP_006712745.1
XM_011511615.2 5420 Missense Mutation AGT,GGT S1666G XP_011509917.1
XM_017004667.1 5420 Missense Mutation AGT,GGT S1666G XP_016860156.1

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