Product Details

SNP ID
rs1977994
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:118137086 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCAGGCAAGCCGTTCTCCGTGT[G/T]GTCATTCCCCGAGGAGCTCACGAGA
Phenotype
MIM: 608256
Polymorphism
G/T, Transversion 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_001142348.1 468 Missense Mutation AAC,CAC N76H NP_001135820.1
NM_001142349.1 468 Missense Mutation AAC,CAC N100H NP_001135821.1
NM_174934.3 468 Missense Mutation AAC,CAC N210H NP_777594.1

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