Product Details

SNP ID

rs121434580

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:2027636 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAAATACCCCATGGACGAGCAGG[A/C]GTGCATGCTGGACCTGGAGAGCTGT

Phenotype

MIM: 137163

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GABRD PubMed Links

Gene Details

Gene

GABRD

Gene Name

gamma-aminobutyric acid type A receptor delta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000815.4	625	Missense Mutation	GAG,GCG	E177A	NP_000806.2
XM_011541194.2	625	Missense Mutation	GAG,GCG	E190A	XP_011539496.1
XM_017000936.1	625	Missense Mutation	GAG,GCG	E412A	XP_016856425.1

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