rs139760904 Rat Genome Database

rs139760904 Rat Genome Database

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Variant: rs139760904 - Homo sapiens

RGD ID:

14711963

RS ID:

rs139760904

ClinVar ID:

CV648439

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FPR1

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	19	52,249,689
GRCh38	19	51,746,436

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_146t1:c.559C>T NM_001193306.2:c.559C>T NG_023426.1:g.10462C>T NM_002029.4:c.559C>T More...	01/07/2024	missense variant	uncertain significance	AllHighlyPenetrant; Gingival disease

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV648439	Human	gingival disease		IAGP		8554872	ClinVar Annotator: match by term: Gingival disease	ClinVar	PMID:28492532

Gene Symbol:	FPR1
Accession:	NM_002029
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
METNSSLPTNISGGTPAVSAGYLFLDIITYLVFAVTFVLGVLGNGLVIWVAGFRMTHTVTTISYLNLAVADFCFTSTLPF FMVRKAMGGHWPFGWFLCKFVFTIVDINLFGSVFLIALIALDRCVCVLHPVWTQNHRTVSLAKKVIIGPWVMALLLTLPV IIRVTTVPGKTGTVACTFNFSPWTNDSKERINVAVAMLTVRGIIRFIIGFSAPMSIVAVSYGLIATKIHKQGLIKSSRPL RVLSFVAAAFFLCWSPYQVVALIATVRIRELLQGMYKEIGIAVDVTSALAFFNSCLNPMLYVFMGQDFRERLIHALPASL ERALTEDSTQTSDTATNSTLPSAEVELQAK*

Gene Symbol:	FPR1
Accession:	NM_001193306
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
METNSSLPTNISGGTPAVSAGYLFLDIITYLVFAVTFVLGVLGNGLVIWVAGFRMTHTVTTISYLNLAVADFCFTSTLPF FMVRKAMGGHWPFGWFLCKFVFTIVDINLFGSVFLIALIALDRCVCVLHPVWTQNHRTVSLAKKVIIGPWVMALLLTLPV IIRVTTVPGKTGTVACTFNFSPWTNDSKERINVAVAMLTVRGIIRFIIGFSAPMSIVAVSYGLIATKIHKQGLIKSSRPL RVLSFVAAAFFLCWSPYQVVALIATVRIRELLQGMYKEIGIAVDVTSALAFFNSCLNPMLYVFMGQDFRERLIHALPASL ERALTEDSTQTSDTATNSTLPSAEVELQAK*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002233855	CLINVAR
	RCV004027451	CLINVAR
dbSNP (RS)	rs139760904	CLINVAR
MedGen	C0017563	CLINVAR
	CN169374	CLINVAR
NCBI Gene	FPR1	CLINVAR
OMIM	136537	CLINVAR