rs2075410363 Rat Genome Database

rs2075410363 Rat Genome Database

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Variant: rs2075410363 - Homo sapiens

RGD ID:

151871865

RS ID:

rs2075410363

ClinVar ID:

CV1437115

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	16	57,286,081
GRCh38	16	57,252,169

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_012106.4:c.394A>G NG_033905.1:g.12044A>G NC_000016.10:g.57252169A>G NC_000016.9:g.57286081A>G NP_036238.1:p.Lys132Glu More...	06/28/2023	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	ARL2BP
Accession:	NM_012106
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDALEGESFALSFSSASDAEFDAVVGYLEDIIMDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQ LLQRIPEFNMAAFTTTLQHHKDEVAGDIFDMLLTFTDFLAFKEMFLDYRAEEEGRGLDLSSGLVVTSLCKSSSLPASQNN LRH*

Gene Symbol:	ARL2BP
Accession:	XM_047433883
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQLLQRIPEFNMAAFTTTLQHHKDEVAGDIFDML LTFTDFLAFKEMFLDYRAEEEGRGLDLSSGLVVTSLCKSSSLPASQNNLRH*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002035775	CLINVAR
dbSNP (RS)	rs2075410363	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	ARL2BP	CLINVAR
OMIM	615407	CLINVAR