RGD:155991109 Rat Genome Database

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Variant: RGD:155991109 -  Homo sapiens

RGD ID: 155991109
ClinVar ID: CV2151300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DGUOK  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 74,154,152
GRCh38 2 73,927,025
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318861.2:c.-150C>G
NM_001318862.2:c.-150C>G
NM_001318860.2:c.-64C>G
NM_001318863.2:c.-64C>G
More... 		05/09/2022 5 prime utr variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:DGUOK
Accession:NM_001318861
Location:5UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318862
Location:5UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318860
Location:5UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318863
Location:5UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_080916
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPGRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGS
LSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFE
ALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:NM_080918
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPGRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRLHFEALMNIPVL
VLDVNDDFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:XM_011532647
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPGRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERYIFAKNLFENGSLSDIEW
HIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIP
VLVLDVNDDFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:NM_001318859
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPGRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERLHFEALMNIPVLVLDVND
DFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:XM_047443587
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPGRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNT
FVKNL*

Gene Symbol:DGUOK
Accession:XM_047443585
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPGRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGS
LSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQAPL*

Gene Symbol:DGUOK
Accession:NR_134897
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134894
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134898
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134893
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134896
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134895
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003016831 CLINVAR
  RCV003324063 CLINVAR
MedGen CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene DGUOK CLINVAR
  LOC129934096 CLINVAR
OMIM 601465 CLINVAR