Product Details

SNP ID
rs199473331
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38550499 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCTGGAGGGTGGGCCAAGGGGT[T/C]GGGAGAAGTTCTCACTCATCACGTA
Phenotype
MIM: 600163
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
SCN5A PubMed Links

Gene Details

Gene
SCN5A
Gene Name
sodium voltage-gated channel alpha subunit 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000335.4 6013 Missense Mutation CAA,CGA Q1957R NP_000326.2
NM_001099404.1 6013 Missense Mutation CAA,CGA Q1958R NP_001092874.1
NM_001099405.1 6013 Missense Mutation CAA,CGA Q1940R NP_001092875.1
NM_001160160.1 6013 Missense Mutation CAA,CGA Q1925R NP_001153632.1
NM_001160161.1 6013 Missense Mutation CAA,CGA Q1904R NP_001153633.1
NM_198056.2 6013 Missense Mutation CAA,CGA Q1958R NP_932173.1
XM_011533991.2 6013 Missense Mutation CAA,CGA Q1957R XP_011532293.1
XM_017007017.1 6013 Missense Mutation CAA,CGA Q1904R XP_016862506.1

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