Product Details

SNP ID

rs139879891

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:152646998 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCAGACTTGGAAAGATTCACGCTT[A/C]GCATACTATGAGACCACCCTGAACT

Phenotype

MIM: 300349

Polymorphism

A/C, 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	377	Missense Mutation	TTA,TTC	L119F	NP_061028.3
XM_011531184.2	377	Missense Mutation	TTA,TTC	L119F	XP_011529486.1

View Full Product Details