Product Details

SNP ID
rs201020049
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:151955029 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAAAAGCTTCCTGATGTTGGCGG[A/G]CACAGGCTCGGGAACGTGCACGGGT
Phenotype
MIM: 300093 MIM: 300769
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GABRE PubMed Links

Gene Details

Gene
GABRE
Gene Name
gamma-aminobutyric acid type A receptor epsilon subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004961.3 631 Missense Mutation GCC,GTC A398V NP_004952.2
XM_011531140.2 631 Missense Mutation GCC,GTC A176V XP_011529442.1
XM_017029386.1 631 Missense Mutation GCC,GTC A285V XP_016884875.1
XM_017029387.1 631 Missense Mutation GCC,GTC A253V XP_016884876.1
XM_017029388.1 631 Missense Mutation GCC,GTC A205V XP_016884877.1
XM_017029389.1 631 UTR 3 XP_016884878.1
Gene
MIR224
Gene Name
microRNA 224
There are no transcripts associated with this gene.

Gene
MIR452
Gene Name
microRNA 452
There are no transcripts associated with this gene.

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