RGD:156299051 Rat Genome Database

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Variant: RGD:156299051 -  Homo sapiens

RGD ID: 156299051
ClinVar ID: CV2325954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 150,724,306
GRCh38 1 150,751,830
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199739.2:c.428T>C
NM_004079.5:c.578T>C
NC_000001.11:g.150751830A>G
NC_000001.10:g.150724306A>G
More... 		12/21/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSS
Accession:NM_001199739
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNEEAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHL
GDMGSCGACWAFSAVGALEAQLKLKTGKLVSLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYITDNKGIDSDASYPYKAMD
QKCQYDSKYRAATCSKYTELPYGREDVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNVNHGVLVVGYGDLNG
KEYWLVKNSWGHNFGEEGYIRMARNKGNHCGIASFPSYPEI*

Gene Symbol:CTSS
Accession:NM_004079
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNEEAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHL
GDMTSEEVMSLMSSLRVPSQWQRNITYKSNPNRILPDSVDWREKGCVTEVKYQGSCGACWAFSAVGALEAQLKLKTGKLV
SLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYITDNKGIDSDASYPYKAMDQKCQYDSKYRAATCSKYTELPYGREDVLKE
AVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNVNHGVLVVGYGDLNGKEYWLVKNSWGHNFGEEGYIRMARNKGNHC
GIASFPSYPEI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002936206 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CTSS CLINVAR
OMIM 116845 CLINVAR