Product Details

SNP ID
rs77416943
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:26547993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAATCGCCCATGCCCTTCTCGAG[G/A]CATGCTCTGTTTCCTGTACTGGATT
Phenotype
MIM: 137192
Polymorphism
G/A, 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 1432 Missense Mutation CCT,TCT P408S NP_000805.1
NM_001191320.1 1432 Missense Mutation CCT,TCT P323S NP_001178249.1
NM_001191321.2 1432 Missense Mutation CCT,TCT P337S NP_001178250.1
NM_001278631.1 1432 Missense Mutation CCT,TCT P323S NP_001265560.1
NM_021912.4 1432 Missense Mutation CCT,TCT P408S NP_068712.1
XM_011521428.2 1432 Missense Mutation CCT,TCT P349S XP_011519730.1

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