Product Details

SNP ID

rs113473839

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:2024978 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCGGCGACTACGTGGGCTCCAA[C/T]CTGGAGATCTCCTGGCTCCCCAACC

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	200	Silent Mutation	AAC,AAT	N35N	NP_000806.2
XM_011541194.2	200	Silent Mutation	AAC,AAT	N48N	XP_011539496.1
XM_017000936.1	200	Silent Mutation	AAC,AAT	N270N	XP_016856425.1

Gene

LOC105378589

Gene Name

uncharacterized LOC105378589

There are no transcripts associated with this gene.

View Full Product Details