Product Details

SNP ID
rs202214691
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:165090253 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTGTTACACTATCATAGGAAGGA[A/G]GAGAGGTGGTAGAGGAACTCCCATC
Phenotype
MIM: 182391
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SCN3A PubMed Links

Gene Details

Gene
SCN3A
Gene Name
sodium voltage-gated channel alpha subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001081676.1 6515 Missense Mutation CCT,CTT P1918L NP_001075145.1
NM_001081677.1 6515 Missense Mutation CCT,CTT P1918L NP_001075146.1
NM_006922.3 6515 Missense Mutation CCT,CTT P1967L NP_008853.3
XM_011511610.2 6515 Missense Mutation CCT,CTT P1967L XP_011509912.1
XM_011511613.2 6515 Missense Mutation CCT,CTT P1337L XP_011509915.1
XM_017004660.1 6515 Missense Mutation CCT,CTT P1967L XP_016860149.1
XM_017004661.1 6515 Missense Mutation CCT,CTT P1950L XP_016860150.1
XM_017004662.1 6515 Missense Mutation CCT,CTT P1921L XP_016860151.1
XM_017004663.1 6515 Missense Mutation CCT,CTT P1337L XP_016860152.1
XM_017004664.1 6515 Intron XP_016860153.1
XM_017004665.1 6515 Intron XP_016860154.1
XM_017004666.1 6515 Intron XP_016860155.1

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