Product Details

SNP ID
rs146733308
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:165991324 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTTTGTCACCCGGTCATAGGAA[G/T]GTGGACAAGCTGCAGTGGACATGGT
Phenotype
MIM: 182389
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
LOC102724058 PubMed Links

Gene Details

Gene
LOC102724058
Gene Name
uncharacterized LOC102724058
There are no transcripts associated with this gene.

Gene
SCN1A
Gene Name
sodium voltage-gated channel alpha subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165963.1 6156 Missense Mutation CAT,CTT H1984L NP_001159435.1
NM_001165964.1 6156 Missense Mutation CAT,CTT H1956L NP_001159436.1
NM_001202435.1 6156 Missense Mutation CAT,CTT H1984L NP_001189364.1
NM_006920.4 6156 Missense Mutation CAT,CTT H1973L NP_008851.3
XM_011511602.2 6156 Missense Mutation XP_011509904.1
XM_011511604.2 6156 Missense Mutation XP_011509906.1
XM_011511605.2 6156 Missense Mutation XP_011509907.1
XM_011511606.2 6156 Missense Mutation XP_011509908.1
XM_017004644.1 6156 Missense Mutation XP_016860133.1
XM_017004645.1 6156 Missense Mutation XP_016860134.1
XM_017004646.1 6156 Missense Mutation XP_016860135.1
XM_017004647.1 6156 Missense Mutation XP_016860136.1
XM_017004648.1 6156 Missense Mutation XP_016860137.1
XM_017004649.1 6156 Missense Mutation XP_016860138.1
XM_017004650.1 6156 Missense Mutation XP_016860139.1
XM_017004651.1 6156 Missense Mutation XP_016860140.1
XM_017004652.1 6156 Missense Mutation XP_016860141.1
XM_017004653.1 6156 Missense Mutation XP_016860142.1
XM_017004654.1 6156 Missense Mutation XP_016860143.1

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