Product Details

SNP ID

rs140855313

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:2024975 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGACATCGGCGACTACGTGGGCTC[C/T]AACCTGGAGATCTCCTGGCTCCCCA

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	197	Silent Mutation	TCC,TCT	S34S	NP_000806.2
XM_011541194.2	197	Silent Mutation	TCC,TCT	S47S	XP_011539496.1
XM_017000936.1	197	Silent Mutation	TCC,TCT	S269S	XP_016856425.1

Gene

LOC105378589

Gene Name

uncharacterized LOC105378589

There are no transcripts associated with this gene.

View Full Product Details