RGD:405004795 Rat Genome Database

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Variant: RGD:405004795 -  Homo sapiens

RGD ID: 405004795
ClinVar ID: CV3016465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DGUOK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 74,154,059
GRCh38 2 73,926,932
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318860.2:c.-157C>T
NM_001318863.2:c.-157C>T
NM_001318861.2:c.-243C>T
NM_001318862.2:c.-243C>T
More... 		11/21/2023 5 prime utr variant likely benign 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: L to L (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGS
LSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFE
ALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:NM_080918
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRLHFEALMNIPVL
VLDVNDDFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:XM_011532647
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERYIFAKNLFENGSLSDIEW
HIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIP
VLVLDVNDDFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:NM_001318859
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERLHFEALMNIPVLVLDVND
DFSEEVTKQEDLMREVNTFVKNL*

Gene Symbol:DGUOK
Accession:XM_047443587
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
AGTQKVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNT
FVKNL*

Gene Symbol:DGUOK
Accession:XM_047443585
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQA
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 RCV003693448 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DGUOK CLINVAR
  LOC129934096 CLINVAR
OMIM 601465 CLINVAR