RGD:15116226 Rat Genome Database

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Variant: RGD:15116226 -  Homo sapiens

RGD ID: 15116226
RS ID: rs757868838
ClinVar ID: CV780325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSK  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 150,771,715
GRCh38 1 150,799,239
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000396.4:c.819T>C
NG_011848.1:g.14098T>C
NC_000001.11:g.150799239A>G
NC_000001.10:g.150771715A>G
More... 		11/14/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CTSK
Accession:NM_000396
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLKYISIHNLEASLGVHTYELAMNHLGD
MTSEEVVQKMTGLKVPLSHSRSNDTLYIPEWEGRAPDSVDYRKKGYVTPVKNQGQCGSCWAFSSVGALEGQLKKKTGKLL
NLSPQNLVDCVSENDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCRGYREIPEGNEKALKRAVA
RVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNSWGENWGNKGYILMARNKNNACGI
ANLASFPKM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000978554 CLINVAR
dbSNP (RS) rs757868838 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CTSK CLINVAR
OMIM 601105 CLINVAR