RGD:401930540 Rat Genome Database

RGD:401930540 Rat Genome Database

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Variant: RGD:401930540 - Homo sapiens

RGD ID:

401930540

ClinVar ID:

CV2824680

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MRAP URB1

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	21	33,684,153
GRCh38	21	32,311,842

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014825.3:c.*3076G>A NM_001285394.2:c.188C>T NM_206898.2:c.207-2709C>T NM_001379228.1:c.365C>T More...	06/01/2022	3 prime utr variant	likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	URB1
Accession:	NM_014825
Location:	3UTRS;EXON

Gene Symbol:	MRAP
Accession:	NM_178817
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYMSWSASPQMRNSPKHHQTCPW SHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPDQLLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSE PPPGDRTSQLQS*

Gene Symbol:	MRAP
Accession:	NM_001285394
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	63

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPDQLLRQESSSTLPLGGFQTH PTLLWELTLNGGPLVRSKPSEPPPGDRTSQLQS*

Gene Symbol:	MRAP
Accession:	NM_001379228
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYMSWSASPQMRNSPKHHQTCPW SHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPDQLLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSE PPPGDRTSQLQS*

Gene Symbol:	MRAP
Accession:	NM_206898
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV003440537	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	MRAP	CLINVAR
	URB1	CLINVAR
OMIM	608865	CLINVAR
	609196	CLINVAR