Product Details

SNP ID
rs74931246
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:152168442 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTGTTGGGGTTGAGGAGGCACTG[G/A]GAGCAGCGCCCTTGGAGATGGTGGA
Phenotype
MIM: 305660
Polymorphism
G/A, Transition Substitution
Allele Nomenclature
Literature Links
GABRA3 PubMed Links

Gene Details

Gene
GABRA3
Gene Name
gamma-aminobutyric acid type A receptor alpha3 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000808.3 1293 Missense Mutation CCC,CTC P422L NP_000799.1
XM_006724811.2 1293 UTR 3 XP_006724874.1

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