Product Details

SNP ID

rs201319051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:46041008 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATTTTATAAGTAAAGATAGCCAA[C/T]CCAATAAACCAAGTTGAACAGGGCA

Phenotype

MIM: 137166

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GABRG1 PubMed Links

Gene Details

Gene

GABRG1

Gene Name

gamma-aminobutyric acid type A receptor gamma1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173536.3	1530	Missense Mutation	ATT,GTT	I460V	NP_775807.2
XM_017007990.1	1530	Missense Mutation	ATT,GTT	I331V	XP_016863479.1

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