rs139594158 Rat Genome Database

rs139594158 Rat Genome Database

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Variant: rs139594158 - Homo sapiens

RGD ID:

15146819

RS ID:

rs139594158

ClinVar ID:

CV692746

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	9	101,340,346
GRCh38	9	98,578,064

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005458.8:c.330C>T NG_016426.1:g.136134C>T NC_000009.12:g.98578064G>A NC_000009.11:g.101340346G>A More...	11/18/2020	synonymous variant	benign\|likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV692746	Human	generalized epilepsy		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV692746	Human	Epileptic encephalopathy		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy	ClinVar	PMID:28492532

Gene Symbol:	GABBR2
Accession:	NM_005458
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	110

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASPRSSGQPGPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMGLMPLTKEVAKGSIGRGVLPA VELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDAIKYGPNHLMVFGGVCPSVTSIIAESLQGWNLVQLSFAATT PVLADKKKYPYFFRTVPSDNAVNPAILKLLKHYQWKRVGTLTQDVQRFSEVRNDLTGVLYGEDIEISDTESFSNDPCTSV KKLKGNDVRIILGQFDQNMAAKVFCCAYEENMYGSKYQWIIPGWYEPSWWEQVHTEANSSRCLRKNLLAAMEGYIGVDFE PLSSKQIKTISGKTPQQYEREYNNKRSGVGPSKFHGYAYDGIWVIAKTLQRAMETLHASSRHQRIQDFNYTDHTLGRIIL NAMNETNFFGVTGQVVFRNGERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLP LYSILSALTILGMIMASAFLFFNIKNRNQKLIKMSSPYMNNLIILGGMLSYASIFLFGLDGSFVSEKTFETLCTVRTWIL TVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVIVGGMLLIDLCILICWQAVDPLRRTVEKYSMEPDPAGRDIS IRPLLEHCENTHMTIWLGIVYAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQ FCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQKKEDSKTSTSVTSVNQASTSRLEGLQSENHRLRM KITELDKDLEEVTMQLQDTPEKTTYIKQNHYQELNDILNLGNFTESTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIE DINSPEHIQRRLSLQLPILHHAYLPSIGGVDASCVSPCVSPTASPRHRHVPPSFRVMVSGL*

Gene Symbol:	GABBR2
Accession:	XM_005252316
Location:	INTRON

Gene Symbol:	GABBR2
Accession:	XM_017015331
Location:	INTRON

Gene Symbol:	GABBR2
Accession:	XM_017015332
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000878623	CLINVAR
	RCV001655638	CLINVAR
dbSNP (RS)	rs139594158	CLINVAR
MedGen	C0543888	CLINVAR
	C3661900	CLINVAR
NCBI Gene	GABBR2	CLINVAR
OMIM	607340	CLINVAR