RGD:15169560 Rat Genome Database

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Variant: RGD:15169560 -  Homo sapiens

RGD ID: 15169560
RS ID: rs56322617
ClinVar ID: CV717800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARAF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 47,426,757
GRCh38 X 47,567,358
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001243125.1:p.Ala337=
NM_001256196.2:c.1011C>T
NM_001256196.1:c.1011C>T
NG_016339.2:g.11242C>T
More... 		02/07/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ARAF
Accession:NM_001654
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRLIKGRKTVTAWDTAIAP
LDGEELIVEVLEDVPLTMHNFVRKTFFSLAFCDFCLKFLFHGFRCQTCGYKFHQHCSSKVPTVCVDMSTNRQQFYHSVQD
LSGGSRQHEAPSNRPLNELLTPQGPSPRTQHCDPEHFPFPAPANAPLQRIRSTSTPNVHMVSTTAPMDSNLIQLTGQSFS
TDAAGSRGGSDGTPRGSPSPASVSSGRKSPHSKSPAEQRERKSLADDKKKVKNLGYRDSGYYWEVPPSEVQLLKRIGTGS
FGTVFRGRWHGDVAVKVLKVSQPTAEQAQAFKNEMQVLRKTRHVNILLFMGFMTRPGFAIITQWCEGSSLYHHLHVADTR
FDMVQLIDVARQTAQGMDYLHAKNIIHRDLKSNNIFLHEGLTVKIGDFGLATVKTRWSGAQPLEQPSGSVLWMAAEVIRM
QDPNPYSFQSDVYAYGVVLYELMTGSLPYSHIGCRDQIIFMVGRGYLSPDLSKISSNCPKAMRRLLSDCLKFQREERPLF
PQILATIELLQRSLPKIERSASEPSLHRTQADELPACLLSAARLVP*

Gene Symbol:ARAF
Accession:NM_001256196
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRLIKGRKTVTAWDTAIAP
LDGEELIVEVLEDVPLTMHNFVRKTFFSLAFCDFCLKFLFHGFRCQTCGYKFHQHCSSKVPTVCVDMSTNRQQPSRFYHS
VQDLSGGSRQHEAPSNRPLNELLTPQGPSPRTQHCDPEHFPFPAPANAPLQRIRSTSTPNVHMVSTTAPMDSNLIQLTGQ
SFSTDAAGSRGGSDGTPRGSPSPASVSSGRKSPHSKSPAEQRERKSLADDKKKVKNLGYRDSGYYWEVPPSEVQLLKRIG
TGSFGTVFRGRWHGDVAVKVLKVSQPTAEQAQAFKNEMQVLRKTRHVNILLFMGFMTRPGFAIITQWCEGSSLYHHLHVA
DTRFDMVQLIDVARQTAQGMDYLHAKNIIHRDLKSNNIFLHEGLTVKIGDFGLATVKTRWSGAQPLEQPSGSVLWMAAEV
IRMQDPNPYSFQSDVYAYGVVLYELMTGSLPYSHIGCRDQIIFMVGRGYLSPDLSKISSNCPKAMRRLLSDCLKFQREER
PLFPQILATIELLQRSLPKIERSASEPSLHRTQADELPACLLSAARLVP*

Gene Symbol:ARAF
Accession:NM_001256197
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971836 CLINVAR
dbSNP (RS) rs56322617 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARAF CLINVAR
OMIM 311010 CLINVAR