RGD:329366571 Rat Genome Database

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Variant: RGD:329366571 -  Homo sapiens

RGD ID: 329366571
ClinVar ID: CV2441717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOXRED1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,880,429
GRCh38 14 77,414,086
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001113475.3:c.197T>C
NM_001394980.1:c.197T>C
NC_000014.9:g.77414086A>G
NC_000014.8:g.77880429A>G
More...
02/14/2023 missense variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOXRED1
Accession:NM_001113475
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMLQDLESLQFEYGVPEEDRIWLYLQGRSRGLMIEACAHATFFCKLLYNLRASLNKNQSSRHLSTGSLNSATPEEFKVG
IIGGGHLGKQLAGTLLQLGPIPAESLRISTRRPETLGELQKLGIKCFYHNADLVSWADVIFLCCLPSQLPNICVEIYTSL
EKASIVYSFVAAIPLPRLKLLLNHTNILRPQYQYDEDSVSVWGANKGVIAALQDPTILQATCPYSPAGGIILNIKWLEGV
FYAALNICTARNMAHSQVLQLLSELFLSVHFEDCGKDTASCPKLQLTDFVSKAYGKNLSQERPFPWFDLTAVQLKETPFS
QHLSSSPVLQDHLTHLYCASFGISLTKEQPVISTGFPSQ*

Gene Symbol:NOXRED1
Accession:XM_005267330
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMLQDLESLQFEYGVPEEDRIWLYLQGRSRGLMIEACAHATFFCKLLYNLRASLNKNQSSRHLSTGSLNSATPEEFKVG
IIGGGHLGKQLAGTLLQLGPIPAESLRISTRRPETLGELQKLGIKCFYHNADLVSWADVIFLCCLPSQLPNICVEIYTSL
EKASIVYSFVAAIPLPRLKLLLNHTNILRPQYQYDEDSVSVWGANKGVIAALQDPTILQATCPYSPAGGIILNIKWLEGV
FYAALNICTARNMAHSQVLQLLSELFLSVHFEDCGKDTASCPKLQLTDFVSKAYGKNLSQERPFPWFDLTAVQLKETPFS
QHLSSSPVLQDHLTHLYCASFGISLTKEQPVISTGFPSQ*

Gene Symbol:NOXRED1
Accession:XM_011536428
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMLQDLESLQFEYGVPEEDRIWLYLQGRSRGLMIEACAHATFFCKLLYNLRASLNKNQSSRHLSTGSLNSATPEEFKVG
IIGGGHLGKQLAGTLLQLGPIPAESLRISTRRPETLGELQKLGIKCFYHNADLVSWADVIFLCCLPSQLPNICVEIYTSL
EKASIVYSFVAAIPLPRLKLLLNHTNILRPQYQYDEDSVSVWGANKGVIAALQDPTILQATCPYSPAGGIILNIKWLEGV
FYAALNICTARNMAHSQVLQLLSELFLSVHFEDCGKDTASCPKLQLTDFVSKAYGKNLSQERPFPWFDLTAVQLKETPFS
QHLSSSPVLQDHLTHLYCASFGISLTKEQPVISTGFPSQ*

Gene Symbol:NOXRED1
Accession:XM_017020969
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMLQDLESLQFEYGVPEEDRIWLYLQGRSRGLMIEACAHATFFCKLLYNLRASLNKNQSSRHLSTGSLNSATPEEFKVG
IIGGGHLGKQLAGTLLQLGPIPAESLRISTRRPETLGELQKLGIKCFYHNADLVSWADVIFLCCLPSQLPNICVEIYTSL
EKASIVYSFVAAIPLPRPFPWFDLTAVQLKETPFSQHLSSSPVLQDHLTHLYCASFGISLTKEQPVISTGFPSQ*

Gene Symbol:NOXRED1
Accession:NM_001394980
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDMLQDLESLQFEYGVPEEDRIWLYLQGRSRGLMIEACAHATFFCKLLYNLRASLNKNQSSRHLSTGSLNSATPEEFKVG
IIGGGHLGKQLAGTLLQLGPIPAESLRISTRRPETLGELQKLGIKCFYHNADLVSWADVIFLCCLPSQLPNICVEIYTSL
EKASIVYSFVAAIPLPRLKLLLNHTNILRPQYQYDEDSVSVWGANKGVIAALQDPTILQATCPYSPAGGIILNIKWLEGV
FYAALNICTARNMAHSQVLQLLSELFLSVHFEDCGKDTASCPKLQLTDFVSKAYGKNLSQERPFPWFDLTAVQLKETPFS
QHLSSSPVLQDHLTHLYCASFGISLTKEQPVISTGFPSQ*

Gene Symbol:NOXRED1
Accession:XM_011536429
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003207823 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene NOXRED1 CLINVAR