C_393247804_10

• SNP ID: rs796052496
• Gene: GABRA1
• Gene Name: gamma-aminobutyric acid type A receptor alpha1 subunit
• Set Membership: -
• Chromosome Location: Chr.5: 161895693 - 161895693 on Build GRCh38
• Polymorphism: C/T, Transition substitution
• Context Sequence [VIC/FAM]:

  GTAACAACTGTGCTCACCATGACAA[C/T]ATTGAGCATCAGTGCCAGAAACTCC

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 137160
Literature Links:	GABRA1 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

GABRA1 - gamma-aminobutyric acid type A receptor alpha1 subunit
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_000806.5	1239	Missense Mutation	ACA,ATA	T,I 295	NP_000797.2
NM_001127643.1	1239	Missense Mutation	ACA,ATA	T,I 295	NP_001121115.1
NM_001127644.1	1239	Missense Mutation	ACA,ATA	T,I 295	NP_001121116.1
NM_001127645.1	1239	Missense Mutation	ACA,ATA	T,I 295	NP_001121117.1
NM_001127648.1	1239	Missense Mutation	ACA,ATA	T,I 295	NP_001121120.1

More Information

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

transport
gamma-aminobutyric acid signaling pathway
ion transmembrane transport
synaptic transmission, GABAergic
cellular response to histamine
chloride transmembrane transport

Function(s)

GABA-A receptor activity
drug binding
GABA receptor activity
GABA-gated chloride ion channel activity