Product Details

SNP ID

rs201112862

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:2028156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACCTGTGTGCTTTTCCTCCAGA[C/T]GGTTACTCATCGGAGGACATCGTCT

Phenotype

MIM: 137163

Polymorphism

C/T, Transition 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	650	Silent Mutation	TAC,TAT	Y185Y	NP_000806.2
XM_011541194.2	650	Silent Mutation	TAC,TAT	Y198Y	XP_011539496.1
XM_017000936.1	650	Silent Mutation	TAC,TAT	Y420Y	XP_016856425.1

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