Product Details

SNP ID

rs142443783

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:89257706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACCAATAAATTAAGTTGAAAAA[C/T]ATGTAGGAGGCAGGGAATATCAACC

Phenotype

MIM: 137162

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GABRR2 PubMed Links

Gene Details

Gene

GABRR2

Gene Name

gamma-aminobutyric acid type A receptor rho2 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002043.4	2581	Missense Mutation	ATA,ATG	I454M	NP_002034.3
XM_011535713.2	2581	Missense Mutation	ATA,ATG	I410M	XP_011534015.1
XM_011535714.2	2581	Missense Mutation	ATA,ATG	I355M	XP_011534016.1
XM_011535715.2	2581	Missense Mutation	ATA,ATG	I355M	XP_011534017.1
XM_011535716.2	2581	Missense Mutation	ATA,ATG	I355M	XP_011534018.1
XM_011535717.2	2581	Missense Mutation	ATA,ATG	I355M	XP_011534019.1

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