Product Details

SNP ID
rs200696506
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:89178823 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGAATAAAATGTATGCTGCTGGAA[A/G]GATGATCCTGGAGTATTTATCAATG
Phenotype
MIM: 137161
Polymorphism
A/G, 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 1791 Missense Mutation CTT,TTT L446F NP_001243632.1
NM_001256704.1 1791 Missense Mutation CTT,TTT L376F NP_001243633.1
NM_001267582.1 1791 Missense Mutation CTT,TTT L376F NP_001254511.1
NM_002042.4 1791 Missense Mutation CTT,TTT L463F NP_002033.2
XM_017010689.1 1791 Missense Mutation CTT,TTT L376F XP_016866178.1

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