Product Details

SNP ID
rs199473639
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38550469 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGGTGGGAAGGAAGTGGAGGAG[C/A]TGGAGGAGCTGGAGGGTGGGCCAAG
Phenotype
MIM: 600163
Polymorphism
C/A, Transversion 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 6043 Missense Mutation AAC,ACC N1967T NP_000326.2
NM_001099404.1 6043 Missense Mutation AAC,ACC N1968T NP_001092874.1
NM_001099405.1 6043 Missense Mutation AAC,ACC N1950T NP_001092875.1
NM_001160160.1 6043 Missense Mutation AAC,ACC N1935T NP_001153632.1
NM_001160161.1 6043 Missense Mutation AAC,ACC N1914T NP_001153633.1
NM_198056.2 6043 Missense Mutation AAC,ACC N1968T NP_932173.1
XM_011533991.2 6043 Missense Mutation XP_011532293.1
XM_017007017.1 6043 Missense Mutation XP_016862506.1

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