RGD:11611832 Rat Genome Database

Variant: RGD:11611832 - Homo sapiens

RGD ID:

11611832

RS ID:

rs369561042

ClinVar ID:

CV309716

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

UROS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	127,496,049
GRCh38	10	125,807,480

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000010.11:g.125807480T>G NC_000010.10:g.127496049T>G NP_000366.1:p.Lys109Asn NP_001310965.1:p.Lys109Asn More...	06/14/2016	missense variant	uncertain significance	all ages	<1 / 1 000 000	Congenital erythropoietic porphyria; Congenital porphyria; GUNTHER DISEASE; Günther disease; none provided; Porphyria, Erythropoietic; UROPORPHYRINOGEN III SYNTHASE DEFICIENCY; Uroporphyrinogen III synthase, deficiency of

Disease Annotations Click to see Annotation Detail View

cutaneous porphyria (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	UROS
Accession:	XM_024448154
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_017016611
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKD CTDTAVMFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_047425709
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKKHP*

Gene Symbol:	UROS
Accession:	NM_001324037
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQ GVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKDCTDTAVMFAAIGPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	NM_001324039
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSSEEVKGIF*

Gene Symbol:	UROS
Accession:	XM_047425710
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKAP PAVAPKTVST*

Gene Symbol:	UROS
Accession:	XM_005270140
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKKHP*

Gene Symbol:	UROS
Accession:	NM_001324038
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQ GVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_024448155
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQ GVPASITFFSPSGLTYSLKHIQELSGDNIDQIKKHP*

Gene Symbol:	UROS
Accession:	NM_001324036
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKD CTDTAVMFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_047425708
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQ GVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKDCTDTAVMFAAIGPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_047425711
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSSEEVKGIF*

Gene Symbol:	UROS
Accession:	NM_000375
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_011540127
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKIEELELQWASWALR*

Gene Symbol:	UROS
Accession:	XM_017016612
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSNIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKLLDGGELLKKFMQGRNKGSH RNLRAKVKCNWPPRPRGASSEN*

Gene Symbol:	UROS
Accession:	NR_136675
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	XR_007061985
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	XR_001747196
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	NR_136676
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	XR_007061986
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	NR_136678
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	NR_136677
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000400305	CLINVAR
	RCV001357032	CLINVAR
dbSNP (RS)	rs369561042	CLINVAR
MedGen	C0162530	CLINVAR
	C3661900	CLINVAR
NCBI Gene	UROS	CLINVAR
OMIM	263700	CLINVAR
	606938	CLINVAR

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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:11611832 - Homo sapiens

Imported Disease Annotations - ClinVar