Product Details

SNP ID
rs142837930
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:29606962 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGAGAGTGAGGACATCCATGCCCA[C/G]CAGCAGGCCCACTGTGGCATACAGC
Phenotype
MIM: 603540
Polymorphism
C/G, Transversion 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 2053 Missense Mutation CTG,GTG L541V NP_001305982.1
NM_001470.3 2053 Missense Mutation CTG,GTG L718V NP_001461.1
NM_021903.2 2053 Missense Mutation CTG,GTG L601V NP_068703.1
NM_021904.3 2053 Missense Mutation CTG,GTG L656V NP_068704.2
XM_005248982.2 2053 Missense Mutation CTG,GTG L723V XP_005249039.1
XM_006715047.3 2053 Missense Mutation CTG,GTG L661V XP_006715110.1
XM_011514453.2 2053 Missense Mutation CTG,GTG L654V XP_011512755.1
XM_011514455.1 2053 Intron XP_011512757.1
XM_017010676.1 2053 Missense Mutation CTG,GTG L535V XP_016866165.1

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