Product Details

SNP ID
rs199473336
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38550400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCACTGTGGCTGTAGTCAGACCCC[T/C]GCACCTGGAGGTTATCGCTGGTGGC
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 6112 Missense Mutation CAG,CGG Q1990R NP_000326.2
NM_001099404.1 6112 Missense Mutation CAG,CGG Q1991R NP_001092874.1
NM_001099405.1 6112 Missense Mutation CAG,CGG Q1973R NP_001092875.1
NM_001160160.1 6112 Missense Mutation CAG,CGG Q1958R NP_001153632.1
NM_001160161.1 6112 Missense Mutation CAG,CGG Q1937R NP_001153633.1
NM_198056.2 6112 Missense Mutation CAG,CGG Q1991R NP_932173.1
XM_011533991.2 6112 Missense Mutation CAG,CGG Q1990R XP_011532293.1
XM_017007017.1 6112 Missense Mutation CAG,CGG Q1937R XP_016862506.1

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