RGD:12839903 Rat Genome Database

Variant: RGD:12839903 - Homo sapiens

RGD ID:

12839903

RS ID:

rs730880502

ClinVar ID:

CV363072

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MAP2K1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	66,729,100
GRCh38	15	66,436,762

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	Trait Synonyms
LRG_725:g.54890T>A NG_008305.1:g.54890T>A NC_000015.10:g.66436762T>A NC_000015.9:g.66729100T>A More...	12/26/2014	missense variant	likely pathogenic	Neoplasm (disease); Neoplasms

Disease Annotations Click to see Annotation Detail View

disease of cellular proliferation (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Neoplasm (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MAP2K1
Accession:	NM_002755
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG VVFKVSHKPSGLVMARKLIHLENKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGR IPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHY SVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNE PPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE NKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE VDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:	MAP2K1
Accession:	XM_011521783
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE NKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLRE KHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYP IPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCL IKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:	MAP2K1
Accession:	XM_017022411
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG VVFKVSHKPSGLVMARKLIHLENKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKI MHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPP DAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNP AERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:	MAP2K1
Accession:	NM_001411065
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE NKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE VDFAGWLCSTIGLNQPSTPTHAAGV*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:19915144	PMID:23614898

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000429680	CLINVAR
dbSNP (RS)	rs730880502	CLINVAR
MedGen	C0027651	CLINVAR
NCBI Gene	MAP2K1	CLINVAR
OMIM	176872	CLINVAR
SNOMED CT	108369006	CLINVAR

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)

Variant: RGD:12839903 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:12839903 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar