Product Details

SNP ID

rs200762621

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:152168414 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACGTAGGTGGCCTTGGGTGAAGC[A/C]ATGATTGTTGGGGTTGAGGAGGCAC

Phenotype

MIM: 305660

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GABRA3 PubMed Links

Gene Details

Gene

GABRA3

Gene Name

gamma-aminobutyric acid type A receptor alpha3 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000808.3	1321	Missense Mutation	ATG,ATT	M431I	NP_000799.1
XM_006724811.2	1321	UTR 3			XP_006724874.1

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