rs1057519876 Rat Genome Database

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Variant: rs1057519876 -  Homo sapiens

RGD ID: 12835107
RS ID: rs1057519876
ClinVar ID: CV363246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARAF  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 47,426,120
GRCh38 X 47,566,721
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001654.5:c.640T>G
NG_016339.2:g.10605T>G
NP_001243125.1:p.Ser217Ala
NC_000023.11:g.47566721T>G
More... 		05/31/2016 missense variant likely pathogenic Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Cutaneous melanoma; Malignant melanoma, somatic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ARAF
Accession:NM_001654
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRLIKGRKTVTAWDTAIAP
LDGEELIVEVLEDVPLTMHNFVRKTFFSLAFCDFCLKFLFHGFRCQTCGYKFHQHCSSKVPTVCVDMSTNRQQFYHSVQD
LSGGSRQHEAPSNRPLNELLTPQGPSPRTQHCDPEHFPFPAPANAPLQRIRSTATPNVHMVSTTAPMDSNLIQLTGQSFS
TDAAGSRGGSDGTPRGSPSPASVSSGRKSPHSKSPAEQRERKSLADDKKKVKNLGYRDSGYYWEVPPSEVQLLKRIGTGS
FGTVFRGRWHGDVAVKVLKVSQPTAEQAQAFKNEMQVLRKTRHVNILLFMGFMTRPGFAIITQWCEGSSLYHHLHVADTR
FDMVQLIDVARQTAQGMDYLHAKNIIHRDLKSNNIFLHEGLTVKIGDFGLATVKTRWSGAQPLEQPSGSVLWMAAEVIRM
QDPNPYSFQSDVYAYGVVLYELMTGSLPYSHIGCRDQIIFMVGRGYLSPDLSKISSNCPKAMRRLLSDCLKFQREERPLF
PQILATIELLQRSLPKIERSASEPSLHRTQADELPACLLSAARLVP*

Gene Symbol:ARAF
Accession:NM_001256196
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRLIKGRKTVTAWDTAIAP
LDGEELIVEVLEDVPLTMHNFVRKTFFSLAFCDFCLKFLFHGFRCQTCGYKFHQHCSSKVPTVCVDMSTNRQQPSRFYHS
VQDLSGGSRQHEAPSNRPLNELLTPQGPSPRTQHCDPEHFPFPAPANAPLQRIRSTATPNVHMVSTTAPMDSNLIQLTGQ
SFSTDAAGSRGGSDGTPRGSPSPASVSSGRKSPHSKSPAEQRERKSLADDKKKVKNLGYRDSGYYWEVPPSEVQLLKRIG
TGSFGTVFRGRWHGDVAVKVLKVSQPTAEQAQAFKNEMQVLRKTRHVNILLFMGFMTRPGFAIITQWCEGSSLYHHLHVA
DTRFDMVQLIDVARQTAQGMDYLHAKNIIHRDLKSNNIFLHEGLTVKIGDFGLATVKTRWSGAQPLEQPSGSVLWMAAEV
IRMQDPNPYSFQSDVYAYGVVLYELMTGSLPYSHIGCRDQIIFMVGRGYLSPDLSKISSNCPKAMRRLLSDCLKFQREER
PLFPQILATIELLQRSLPKIERSASEPSLHRTQADELPACLLSAARLVP*

Gene Symbol:ARAF
Accession:NM_001256197
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26619011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000421117 CLINVAR
  RCV000428557 CLINVAR
  RCV000438348 CLINVAR
dbSNP (RS) rs1057519876 CLINVAR
MedGen C0151779 CLINVAR
  C0152013 CLINVAR
  C1336078 CLINVAR
NCBI Gene ARAF CLINVAR
OMIM 311010 CLINVAR
SNOMED CT 93655004 CLINVAR