Product Details

SNP ID
rs200579653
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:161686994 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACCAGTTTTGGGCCCGTGTCAGA[G/T]GTGGAGATGGTGAGTAAGTTCTAAG
Phenotype
MIM: 137143
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
GABRA6 PubMed Links

Gene Details

Gene
GABRA6
Gene Name
gamma-aminobutyric acid type A receptor alpha6 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000811.2 554 Missense Mutation GAG,GAT E72D NP_000802.2

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