Product Details

SNP ID
rs199765302
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:166405670 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGAACATCTCTGTCACCATCTAT[C/G]ATATGAATATCTGATGTATTTTTGT
Phenotype
MIM: 182392
Polymorphism
C/G, Transversion 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 5383 Missense Mutation ATC,ATG I1653M NP_002967.2
XM_006712680.2 5383 Missense Mutation ATC,ATG I1653M XP_006712743.1
XM_006712681.3 5383 Missense Mutation ATC,ATG I1653M XP_006712744.1
XM_006712682.3 5383 Missense Mutation ATC,ATG I1653M XP_006712745.1
XM_011511615.2 5383 Missense Mutation ATC,ATG I1653M XP_011509917.1
XM_017004667.1 5383 Missense Mutation ATC,ATG I1653M XP_016860156.1

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