Product Details

SNP ID

rs28753776

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:2027588 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTGTCTTGGCAGAATCACCTCCA[C/G]TGTGGCCTGCGACATGGACCTGGCC

Phenotype

MIM: 137163

Polymorphism

C/G, 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	577	Missense Mutation	ACT,AGT	T161S	NP_000806.2
XM_011541194.2	577	Missense Mutation	ACT,AGT	T174S	XP_011539496.1
XM_017000936.1	577	Missense Mutation	ACT,AGT	T396S	XP_016856425.1

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