Product Details

SNP ID

rs141106898

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:162068051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAGCTCAGTCTACTCGACTCCT[C/G]TATTTTCACAGAAAATGACGGTGTG

Phenotype

MIM: 137164

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GABRG2 PubMed Links

Gene Details

Gene

GABRG2

Gene Name

gamma-aminobutyric acid type A receptor gamma2 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000816.3	410	Missense Mutation	CTA,GTA	L18V	NP_000807.2
NM_198903.2	410	Missense Mutation	CTA,GTA	L18V	NP_944493.2
NM_198904.2	410	Missense Mutation	CTA,GTA	L18V	NP_944494.1

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