Product Details

SNP ID
rs199842945
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:29605687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCAGCAGCAGCCCCTTGTAACCA[C/T]AGAAAATGCCTAGGATGGCAGGAGA
Phenotype
MIM: 603540
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GABBR1 PubMed Links

Gene Details

Gene
GABBR1
Gene Name
gamma-aminobutyric acid type B receptor subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319053.1 2222 Missense Mutation TAT,TGT Y597C NP_001305982.1
NM_001470.3 2222 Missense Mutation TAT,TGT Y774C NP_001461.1
NM_021903.2 2222 Missense Mutation TAT,TGT Y657C NP_068703.1
NM_021904.3 2222 Missense Mutation TAT,TGT Y712C NP_068704.2
XM_005248982.2 2222 Missense Mutation TAT,TGT Y779C XP_005249039.1
XM_006715047.3 2222 Missense Mutation TAT,TGT Y717C XP_006715110.1
XM_011514453.2 2222 Missense Mutation TAT,TGT Y710C XP_011512755.1
XM_011514455.1 2222 Intron XP_011512757.1
XM_017010676.1 2222 Missense Mutation TAT,TGT Y591C XP_016866165.1

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