C_100256998_10

• SNP ID: rs78912255
• Gene: GABRA2
• Gene Name: gamma-aminobutyric acid type A receptor alpha2 subunit
• Set Membership: -
• Chromosome Location: Chr.4: 46251820 - 46251820 on Build GRCh38
• Polymorphism: A/G, Transition substitution
• Context Sequence [VIC/FAM]:

  CTGCTTCTGTCTTGTTCACCTTTGT[A/G]ATCTTAGCACTTAGCATGAAGCCTT

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 G (0.02) (0.98)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.09) (0.91)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.00) (1.00)
AMR G (0.01) (0.99)

GABRA2 - gamma-aminobutyric acid type A receptor alpha2 subunit
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_000807.2		Intron			NP_000798.2
NM_001114175.1		Intron			NP_001107647.1
NM_001286827.1		Intron			NP_001273756.1
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

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