Product Details

SNP ID
rs140401546
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:29604502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACACCCACCCCCGCACCTCAGCAA[C/T]GATCTTTTCCAGTTCACGGTTCTCC
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 2605 Missense Mutation ATT,GTT I725V NP_001305982.1
NM_001470.3 2605 Missense Mutation ATT,GTT I902V NP_001461.1
NM_021903.2 2605 Missense Mutation ATT,GTT I785V NP_068703.1
NM_021904.3 2605 Missense Mutation ATT,GTT I840V NP_068704.2
XM_005248982.2 2605 Missense Mutation ATT,GTT I907V XP_005249039.1
XM_006715047.3 2605 Missense Mutation ATT,GTT I845V XP_006715110.1
XM_011514453.2 2605 Missense Mutation ATT,GTT I838V XP_011512755.1
XM_011514455.1 2605 Intron XP_011512757.1
XM_017010676.1 2605 Missense Mutation ATT,GTT I719V XP_016866165.1

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