RGD:10411041 Rat Genome Database

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Variant: RGD:10411041 -  Homo sapiens

RGD ID: 10411041
RS ID: rs141066870
ClinVar ID: CV211480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX15  LOC130004506  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 101,491,724
GRCh38 10 99,731,967
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_406t1:c.83G>C
LRG_406t2:c.83G>C
LRG_406:g.5700G>C
NG_008986.1:g.5700G>C
More...
10/20/2011 5 prime utr variant|missense variant likely benign|uncertain significance AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COX15
Accession:NM_001320976
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_078470
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALW
LMNELRRVPK*

Gene Symbol:COX15
Accession:NM_004376
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQGPVLFNFTFKISDLDEGIRNI*

Gene Symbol:COX15
Accession:XM_006717634
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:COX15
Accession:NM_001320974
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQTYYRTELSQKMQLHCNSTNMS*

Gene Symbol:COX15
Accession:NM_001320975
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:COX15
Accession:NM_001372026
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRIL
GITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVP
K*

Gene Symbol:COX15
Accession:NM_001372028
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:COX15
Accession:NM_001372027
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAWAWASARC*

Gene Symbol:COX15
Accession:NM_001372024
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQSFTLVAQAGVQWRDLSSLCNLHFPGSSDSHASA
SRVAGTTGTSHHAWLILYF*

Gene Symbol:COX15
Accession:NM_001372025
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPTAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILTLSSLQGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLAL
LTGALWLMNELRRVPK*

Gene Symbol:COX15
Accession:NR_164009
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000199425 CLINVAR
  RCV001853174 CLINVAR
  RCV003243016 CLINVAR
dbSNP (RS) rs141066870 CLINVAR
MedGen C0950123 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene COX15 CLINVAR
  LOC130004506 CLINVAR
OMIM 603646 CLINVAR