RGD:12834874 Rat Genome Database

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Variant: RGD:12834874 -  Homo sapiens

RGD ID: 12834874
RS ID: rs1057519819
ClinVar ID: CV363071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 66,729,088
GRCh38 15 66,436,750
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_725:g.54878T>C
NG_008305.1:g.54878T>C
NC_000015.10:g.66436750T>C
NC_000015.9:g.66729088T>C
More... 		12/26/2014 missense variant likely pathogenic Neoplasm (disease); Neoplasms
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Neoplasm  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MAP2K1
Accession:XM_011521783
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLTHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLRE
KHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYP
IPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCL
IKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:NM_002755
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLTHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGR
IPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHY
SVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNE
PPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:NM_001411065
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLTHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLTHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLTHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKI
MHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPP
DAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNP
AERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*
Variant Samples
Additional References at PubMed
PMID:19915144  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420695 CLINVAR
dbSNP (RS) rs1057519819 CLINVAR
MedGen C0027651 CLINVAR
NCBI Gene MAP2K1 CLINVAR
OMIM 176872 CLINVAR
SNOMED CT 108369006 CLINVAR