RGD:153302941 Rat Genome Database

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Variant: RGD:153302941 -  Homo sapiens

RGD ID: 153302941
RS ID: rs1057519732
ClinVar ID: CV1689706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 66,729,162
GRCh38 15 66,436,824
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_725:g.54952C>G
NG_008305.1:g.54952C>G
NC_000015.10:g.66436824C>G
NC_000015.9:g.66729162C>G
More... 		07/15/2022 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAP2K1
Accession:NM_002755
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSAYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGR
IPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHY
SVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNE
PPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:XM_011521783
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSAYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLRE
KHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYP
IPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCL
IKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSAYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKI
MHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPP
DAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNP
AERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSAYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:NM_001411065
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSAYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWLCSTIGLNQPSTPTHAAGV*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002267695 CLINVAR
dbSNP (RS) rs1057519732 CLINVAR
MedGen C3809006 CLINVAR
NCBI Gene MAP2K1 CLINVAR
OMIM 176872 CLINVAR
  615279 CLINVAR