RGD:401758778 Rat Genome Database

RGD ID:

401758778

ClinVar ID:

CV2694273

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	27,031,775
GRCh38	17	28,704,757

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001304953.2:c.-220C>T NM_001304954.2:c.-220C>T NM_001366303.1:c.-220C>T NM_001366302.1:c.100C>T More...	05/02/2023	5 prime utr variant	likely benign	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	PROCA1
Accession:	NM_152465
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	60

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRGDCKEPDKCCWRHKQCTGHIIYPFASDCVCHSLHLHSVNHCNCNSRLKDS SEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIP TQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKK SPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQAR KVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	XM_006721723
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRDVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIY PFASDCVCHSLHLHSVNHCNCNSRLKDSSEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRCKSYRPVSVAVIHHPL YHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKE KDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIV ESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001304949
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRADAAVAGREERSEDTELTEGDCKEPDKCCWRHKQCTGHIIYPFASDCVCHSLHLHSVNHCNCNSRLKDSSEDSSSSRG AGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATAS PDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSP PDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPP GSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001304952
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSITYVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIYPFASDCVCHSLHLHSVNHCNCNSRLK DSSEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPP IPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTK KKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQ ARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001366301
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRDVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIY PFASDCVCHSLHLHSVNHCNCNSRLKDSSEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIH HPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKK EKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSE DIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001366302
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSITCDCKEPDKCCWRHKQCTGHIIYPFASDCVCHSLHLHSVNHCNCNSRLKDSSEDSSSSRGAGPTCSHVIESPCFELT PEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAP ITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSE SSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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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