Product Details

SNP ID
rs147741658
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39052068 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAACACAGCAGGGCGGAGGAAA[A/G]TGCAGGTATGGAAGCCCGGTTCCTC
Phenotype
MIM: 604385 MIM: 612167
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SCN11A PubMed Links

Gene Details

Gene
SCN11A
Gene Name
sodium voltage-gated channel alpha subunit 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287223.1 83 Intron NP_001274152.1
NM_014139.2 83 Intron NP_054858.2
XM_011533321.2 83 Intron XP_011531623.1
XM_017005647.1 83 Intron XP_016861136.1
XM_017005648.1 83 Intron XP_016861137.1
XM_017005649.1 83 Intron XP_016861138.1
XM_017005650.1 83 Intron XP_016861139.1
XM_017005651.1 83 Intron XP_016861140.1
XM_017005652.1 83 Intron XP_016861141.1
XM_017005653.1 83 Intron XP_016861142.1
Gene
WDR48
Gene Name
WD repeat domain 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303402.1 83 UTR 5 NP_001290331.1
NM_001303403.1 83 Missense Mutation ATG,GTG M15V NP_001290332.1
NM_020839.3 83 Missense Mutation ATG,GTG M15V NP_065890.1
XM_005265346.3 83 Missense Mutation ATG,GTG M15V XP_005265403.1
XM_011533971.1 83 Intron XP_011532273.1
XM_017006960.1 83 Intron XP_016862449.1

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