Product Details

SNP ID
rs140348243
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:118137097 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGTTCTCCGTGTTGTCATTCCCC[A/G]AGGAGCTCACGAGACACTCCTTCCT
Phenotype
MIM: 608256
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SCN4B PubMed Links

Gene Details

Gene
SCN4B
Gene Name
sodium voltage-gated channel beta subunit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142348.1 457 Missense Mutation TCG,TTG S72L NP_001135820.1
NM_001142349.1 457 Missense Mutation TCG,TTG S96L NP_001135821.1
NM_174934.3 457 Missense Mutation TCG,TTG S206L NP_777594.1

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