RGD:15139900 Rat Genome Database

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Variant: RGD:15139900 -  Homo sapiens

RGD ID: 15139900
RS ID: rs782684967
ClinVar ID: CV689374
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCNQ  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 152,861,578
GRCh38 X 153,596,120
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130997.3:c.180C>T
NG_008393.2:g.8058C>T
NC_000023.10:g.152861578G>A
NM_152274.3:c.180C>T
More...
01/01/2023 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CCNQ
Accession:NM_152274
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAPEGGGGGPAARGPEGQPAPEARVHFRVARFIMEAGVKLGMRSIPIATACTIYHKFFCETNLDAYDPYLIAMSSIYLA
GKVEEQHLRTRDIINVSNRYFNPSGEPLELDSRFWELRDSIVQCELLMLRVLRFQVSFQHPHKYLLHYLVSLQNWLNRHS
WQRTPVAVTAWALLRDSYHGALCLRFQAQHIAVAVLYLALQVYGVEVPAEVEAEKPWWQVFNDDLTKPIIDNIVSDLIQI
YTMDTEIP*

Gene Symbol:CCNQ
Accession:NM_001130997
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAPEGGGGGPAARGPEGQPAPEARVHFRVARFIMEAGVKLGMRSIPIATACTIYHKFFCETNLDAYDPYLIAMSSIYLA
GKVEEQHLRTRDIINVSNRYFNPSGEPLELDSRFWELRDSIVQCELLMLRVLRFQVSFQHPHKYLLHYLVSLQNWLNRHS
WQRTPVAVTAWALLRDSYHGALCLRFQAQHIAVAVLYLALQVYGVEVPAEVEAEKPWWQIYTMDTEIP*

Gene Symbol:CCNQ
Accession:XM_011531214
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSIPIATACTIYHKFFCETNLDAYDPYLIAMSSIYLAGKVEEQHLRTRDIINVSNRYFNPSGEPLELDSRFWELRDSIV
QCELLMLRVLRFQVSFQHPHKYLLHYLVSLQNWLNRHSWQRTPVAVTAWALLRDSYHGALCLRFQAQHIAVAVLYLALQV
YGVEVPAEVEAEKPWWQVFNDDLTKPIIDNIVSDLIQIYTMDTEIP*

Gene Symbol:CCNQ
Accession:XM_047442631
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAPEGGGGGPAARGPEGQPAPEARVHFRVARFIMEAGVKLGMRSIPIATACTIYHKFFCETNLDAYDPYLIAMSSIYLA
GKVEEQHLRTRDIINVSNRYFNPSGEPLELDSRFWELRDSIVQCELLMLRVLRFQVSFQHPHKVFNDDLTKPIIDNIVSD
LIQIYTMDTEIP*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000865080 CLINVAR
dbSNP (RS) rs782684967 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CCNQ CLINVAR
OMIM 300708 CLINVAR