RGD:15133343 Rat Genome Database

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Variant: RGD:15133343 -  Homo sapiens

RGD ID: 15133343
RS ID: rs1338399884
ClinVar ID: CV683926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF5  PRKAR1B  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 766,873
GRCh38 7 727,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164758.2:c.-23+354G>C
NC_000007.14:g.727236C>G
NM_001164759.1:c.-23+419G>C
NC_000007.13:g.766873C>G
More... 		12/27/2018 5 prime utr variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKAR1B
Accession:NM_001164760
Location:5UTRS;EXON

Gene Symbol:PRKAR1B
Accession:XM_047420607
Location:5UTRS;INTRON

Gene Symbol:PRKAR1B
Accession:NM_001164759
Location:5UTRS;INTRON

Gene Symbol:PRKAR1B
Accession:NM_001164758
Location:5UTRS;INTRON

Gene Symbol:DNAAF5
Accession:NM_017802
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEPGPAADPTAFQGPWARLLLPR
LLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPALAARLAGPVPARRPPEACEELRLALVQLLGLAVDLCGAAL
APHLDDALRALRCSLLDPFAAVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISHQHWKVRVAAIEATGAVIHFGNG
KSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRYSFFHKLIPLLLSSLNDEVPEVRQLAASLWEDVGLQWQKEN
EEDLKDKLDFAPPTPPHYPPHERRPVLGCRELVFRNLSKILPALCHDITDWVVGTRVKSAQLLPVLLLHAEDHATQHLEV
VLRTLFQACTDEEAAVVQSCTRSAELVGTFVSPEVFLKLILSTLKKTPSASGLLVLASAMRGCPREALQPHLAAIATELA
QAHICQASENDLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLTIVALAGATGLRDKAQETMDSLAMVEGVSSCQDLYR
KHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGEALPHVVPTLRACLQPSQDPQMRLKLFSILSTVLLRATDTI
NSQGQFPSYLETVTKDILAPNLQWHAGRTAAAIRTAAVSCLWALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLI
SCRIINTFLKTSGGMTDPEKLIRIYPELLKRLDDVSNDVRMAAASTLVTWLQCVKGANAKSYYQSSVQYLYRELLVHLDD
PERAIQDAILEVLKEGSGLFPDLLVRETEAVIHKHRSATYCEQLLQHVQAVPATQ*

Gene Symbol:DNAAF5
Accession:XM_024446813
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEPGPAADPTAFQGPWARLLLPR
LLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPALAARLAGPVPARRPPEACEELRLALVQLLGLAVDLCGAAL
APHLDDALRALRCSLLDPFAAVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISHQHWKVRVAAIEATGAVIHFGNG
KSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRYSFFHKLIPLLLSSLNDEVPEVRQLAASLWEDVGLQWQKEN
EEDLKDKLDFAPPTPPHYPPHERRPVLGCRELVFRNLSKILPALCHDITDWVVGTRVKSAQLLPVLLLHAEDHATQHLEV
VLRTLFQACTDEEAAVVQSCTRSAELVGTFVSPEVFLKLILSTLKKTPSASGLLVLASAMRGCPREALQPHLAAIATELA
QAHICQASENDLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLTIVALAGATGLRDKAQETMDSLAMVEGVSSCQDLYR
KHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGEALPHVVPTLRACLQPSQDPQMRLKLFSILSTVLLRATDTI
NSQGQFPSYLETVTKDILAPNLQWHAGRTAAAIRTAAVSCLWALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLI
SCRIINTFLKTSGGMTDPEKLIRIYPEVLKEGSGLFPDLLVRETEAVIHKHRSATYCEQLLQHVQAVPATQ*

Gene Symbol:DNAAF5
Accession:NR_075098
Location:EXON;NON-CODING

Gene Symbol:PRKAR1B
Accession:NM_001164761
Location:INTRON

Gene Symbol:PRKAR1B
Accession:XM_047420610
Location:INTRON

Gene Symbol:PRKAR1B
Accession:XM_011515446
Location:INTRON

Gene Symbol:PRKAR1B
Accession:XM_047420609
Location:INTRON

Gene Symbol:PRKAR1B
Accession:XM_047420608
Location:INTRON

Gene Symbol:PRKAR1B
Accession:NM_001164762
Location:INTRON

Gene Symbol:PRKAR1B
Accession:NM_002735
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000863947 CLINVAR
dbSNP (RS) rs1338399884 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAAF5 CLINVAR
  LOC129997731 CLINVAR
  PRKAR1B CLINVAR
OMIM 176911 CLINVAR
  614864 CLINVAR