Product Details

SNP ID
rs200078707
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:89178957 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCACCATCATCCTGTCGGGCTTC[C/T]CTCCATTCTCTGGCATGTAGTTGTC
Phenotype
MIM: 137161
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GABRR1 PubMed Links

Gene Details

Gene
GABRR1
Gene Name
gamma-aminobutyric acid type A receptor rho1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256703.1 1657 Missense Mutation GAG,GGG E401G NP_001243632.1
NM_001256704.1 1657 Missense Mutation GAG,GGG E331G NP_001243633.1
NM_001267582.1 1657 Missense Mutation GAG,GGG E331G NP_001254511.1
NM_002042.4 1657 Missense Mutation GAG,GGG E418G NP_002033.2
XM_017010689.1 1657 Missense Mutation GAG,GGG E331G XP_016866178.1

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