Product Details

SNP ID

rs181002068

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:151954943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGGGCTACCTGGGCTAGGGGGCT[A/G]CTGGGCTGAGCAAGACGGGCGCTCC

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	717	Nonsense Mutation	CAG,TAG	Q427*	NP_004952.2
XM_011531140.2	717	Nonsense Mutation	CAG,TAG	Q205*	XP_011529442.1
XM_017029386.1	717	Nonsense Mutation	CAG,TAG	Q314*	XP_016884875.1
XM_017029387.1	717	Nonsense Mutation	CAG,TAG	Q282*	XP_016884876.1
XM_017029388.1	717	Nonsense Mutation	CAG,TAG	Q234*	XP_016884877.1
XM_017029389.1	717	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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