Product Details

SNP ID

rs185696400

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:152649320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTATGGACAAGCAGGCCTGCAACCT[G/T]GTGGTAGAGAGCTGTACGTATGTCT

Phenotype

MIM: 300349

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GABRQ PubMed Links

Gene Details

Gene

GABRQ

Gene Name

gamma-aminobutyric acid type A receptor theta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018558.3	617	Silent Mutation	CTG,CTT	L199L	NP_061028.3
XM_011531184.2	617	Silent Mutation	CTG,CTT	L199L	XP_011529486.1

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