Product Details

SNP ID
rs199522402
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38846711 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGAGGGCTCAGTCACAGTGGACCT[C/T]GCCCTTGGCCACCCCAAAGCTAGAC
Phenotype
MIM: 604385
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SCN11A PubMed Links

Gene Details

Gene
SCN11A
Gene Name
sodium voltage-gated channel alpha subunit 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287223.1 4167 Missense Mutation AAG,GAG K1787E NP_001274152.1
NM_014139.2 4167 Missense Mutation AAG,GAG K1787E NP_054858.2
XM_011533321.2 4167 Missense Mutation AAG,GAG K1566E XP_011531623.1
XM_017005647.1 4167 Missense Mutation AAG,GAG K1912E XP_016861136.1
XM_017005648.1 4167 Missense Mutation AAG,GAG K1721E XP_016861137.1
XM_017005649.1 4167 Missense Mutation AAG,GAG K1787E XP_016861138.1
XM_017005650.1 4167 Missense Mutation AAG,GAG K1787E XP_016861139.1
XM_017005651.1 4167 Missense Mutation AAG,GAG K1696E XP_016861140.1
XM_017005652.1 4167 Intron XP_016861141.1
XM_017005653.1 4167 Missense Mutation AAG,GAG K1255E XP_016861142.1

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