Product Details

SNP ID
rs185383468
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:26548011 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCGAGGCATGCTCTGTTTCCTGT[A/G]CTGGATTCCTGAGTTGTCAAAGGAT
Phenotype
MIM: 137192
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
GABRB3 PubMed Links

Gene Details

Gene
GABRB3
Gene Name
gamma-aminobutyric acid type A receptor beta3 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000814.5 1414 Missense Mutation CAC,TAC H402Y NP_000805.1
NM_001191320.1 1414 Missense Mutation CAC,TAC H317Y NP_001178249.1
NM_001191321.2 1414 Missense Mutation CAC,TAC H331Y NP_001178250.1
NM_001278631.1 1414 Missense Mutation CAC,TAC H317Y NP_001265560.1
NM_021912.4 1414 Missense Mutation CAC,TAC H402Y NP_068712.1
XM_011521428.2 1414 Missense Mutation CAC,TAC H343Y XP_011519730.1

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