RGD:15109296 Rat Genome Database

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Variant: RGD:15109296 -  Homo sapiens

RGD ID: 15109296
RS ID: rs114002462
ClinVar ID: CV728283
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC8  LOC127891804  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 46,915,469
GRCh38 19 46,412,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032040.5:c.599A>T
NG_031956.1:g.6451A>T
NC_000019.10:g.46412212T>A
NC_000019.9:g.46915469T>A
More... 		03/02/2019 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CCDC8
Accession:NM_032040
Location:EXON
Amino Acid Prediction: Q to L (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIMEKSTPHPPQPPKKPKEPRVRR
RVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQ
EKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSLVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAP
EGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAADSQREEAIADQREGAAGNQR
AGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQREEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQG
SEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRF
QTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEARAEAEQGEQEDQL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000893838 CLINVAR
dbSNP (RS) rs114002462 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CCDC8 CLINVAR
OMIM 614145 CLINVAR