C__30437589_10

• SNP ID: rs9291282
• Gene: GABRA2
• Gene Name: gamma-aminobutyric acid type A receptor alpha2 subunit
• Set Membership: > HapMap
• Chromosome Location: Chr.4: 46287182 - 46287182 on Build GRCh38
• Polymorphism: C/T, Transition substitution
• Context Sequence [VIC/FAM]:

  CATTCTTTTGAATTTGGCAGTTATC[C/T]GGCTATAACAGCATCATTTGATAAA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 137140
Literature Links:	GABRA2 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global C (0.37) (0.63)	Caucasian - Not Available	CEPH (CEU) T (0.48) (0.52)
EAS T (0.48) (0.52)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.23) (0.77)	Chinese - Not Available	JPT (Japanese) C (0.36) (0.64)
AFR C (0.27) (0.73)	Japanese - Not Available	CHB (Han Chinese) C (0.50) (0.50)
EUR C (0.43) (0.57)
AMR C (0.47) (0.53)

GABRA2 - gamma-aminobutyric acid type A receptor alpha2 subunit
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
XM_005248080.3		Intron			XP_005248137.1
XM_011513675.1		Intron			XP_011511977.1
XM_011513676.1		Intron			XP_011511978.1
XM_017007982.1		Intron			XP_016863471.1
XM_017007983.1		Intron			XP_016863472.1

More Information

• Set Membership: HapMap

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

regulation of neurotransmitter levels
neurotransmitter transport
gamma-aminobutyric acid signaling pathway
ion transmembrane transport
chloride transmembrane transport

Function(s)

GABA-A receptor activity
benzodiazepine receptor activity
GABA-gated chloride ion channel activity