RGD:8690765 Rat Genome Database

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Variant: RGD:8690765 -  Homo sapiens

RGD ID: 8690765
RS ID: rs34652235
ClinVar ID: CV140717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX15  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 101,474,368
GRCh38 10 99,714,611
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_406t2:c.1102-1132T>C
LRG_406t1:c.1209T>C
LRG_406:g.23056T>C
NG_008986.1:g.23056T>C
More... 		05/02/2019 3 prime utr variant|intron variant|synonymous variant benign AllHighlyPenetrant; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COX15
Accession:NM_001320975
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372027
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372028
Location:3UTRS;INTRON

Gene Symbol:COX15
Accession:XM_006717634
Location:3UTRS;INTRON

Gene Symbol:COX15
Accession:NM_001320976
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQ
LRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITV
LYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK*

Gene Symbol:COX15
Accession:NM_001372025
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 409
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILTLSSLQGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLAL
LTGALWLMNELRRVPK*

Gene Symbol:COX15
Accession:NM_001372026
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRIL
GITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVP
K*

Gene Symbol:COX15
Accession:NM_078470
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 403
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV
AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWT
SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT
MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALW
LMNELRRVPK*

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

Gene Symbol:COX15
Accession:NM_001372024
Location:INTRON

Gene Symbol:COX15
Accession:NM_001320974
Location:INTRON

Gene Symbol:COX15
Accession:NM_004376
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000124579 CLINVAR
  RCV000755986 CLINVAR
dbSNP (RS) rs34652235 CLINVAR
MedGen C3554534 CLINVAR
  CN169374 CLINVAR
NCBI Gene COX15 CLINVAR
OMIM 603646 CLINVAR
  615119 CLINVAR