RGD:401891601 Rat Genome Database

RGD:401891601 Rat Genome Database

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Variant: RGD:401891601 - Homo sapiens

RGD ID:

401891601

ClinVar ID:

CV2780566

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127824109 PRPH TROAP-AS1

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	49,689,399
GRCh38	12	49,295,616

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006262.4:c.416G>A NG_008354.1:g.5491G>A NG_125629.1:g.554G>A NC_000012.12:g.49295616G>A More...	07/14/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2780566	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	PRPH
Accession:	NM_006262
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDF SMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPAHADQLCQQELRELRRELELLGR ERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQ VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQ SLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLL EGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY*

Gene Symbol:	TROAP-AS1
Accession:	NR_120449
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV003369525	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	PRPH	CLINVAR
	TROAP-AS1	CLINVAR
OMIM	170710	CLINVAR