RGD:151855886 Rat Genome Database

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Variant: RGD:151855886 -  Homo sapiens

RGD ID: 151855886
RS ID: rs1181649872
ClinVar ID: CV1401799
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 41,220,266
GRCh38 19 40,714,361
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024876.4:c.139C>G
NG_012970.1:g.2259G>C
NG_027800.1:g.7525C>G
NC_000019.10:g.40714361G>C
More... 		09/24/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:COQ8B
Accession:NM_001142555
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYEDGPGRGLGEEDIRRAREARPRKTPRPQLSDRSR
ERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRLQSDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGR
DWQAKVASLEEVPFAAASIGQVHQGLLRDGTEVAVKIQYPGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQEL
AWECDYRREAACAQNFRQLLANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFEF
RFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDHYIEVVKAAADGDRDCVLQKSRDLKFLTGFETKAFSDAHVEA
VMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCPPPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWA
SRQPDAATAGSLPTKGDSWVDPS*

Gene Symbol:COQ8B
Accession:NM_024876
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYEDGPGRGLGEEDIRRAREARPRKTPRPQLSDRSR
ERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRLQSEGGSGLDSSPFLSEANAERIVQTLCTVRGAALKVGQML
SIQDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGRDWQAKVASLEEVPFAAASIGQVHQGLLRDGTEVAVKIQY
PGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQELAWECDYRREAACAQNFRQLLANDPFFRVPAVVKELCTTR
VLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFEFRFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDH
YIEVVKAAADGDRDCVLQKSRDLKFLTGFETKAFSDAHVEAVMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCP
PPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWASRQPDAATAGSLPTKGDSWVDPS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002017171 CLINVAR
dbSNP (RS) rs1181649872 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COQ8B CLINVAR
OMIM 615567 CLINVAR