RGD:152978363 Rat Genome Database

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Variant: RGD:152978363 -  Homo sapiens

RGD ID: 152978363
RS ID: rs2151116808
ClinVar ID: CV1671552
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUTA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 33,385,313
GRCh38 6 33,417,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001014838.1:p.Val45Ile
NP_057005.1:p.Val45Ile
NP_001014840.1:p.Val68Ile
NM_001014433.3:c.133G>A
More... 		06/11/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CUTA
Accession:NM_015921
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALLPVASRLLLLPRVLLTMASGSPPTQPSPASDSGSGYVPGSISAAFVTCPNEKVAKEIARAVVEKRLAACVNLIPQI
TSIYEWKGKIEEDSEVLMMIKTQSSLVPALTDFVRSVHPYEVAEVIALPVEQGNFPYLQWVRQVTESVSDSITVLP*

Gene Symbol:CUTA
Accession:NM_001014838
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALLPVASRLLLLPRVLLTMASGSPPTQPSPASDSGSGYVPGSISAAFVTCPNEKVAKEIARAVVEKRLAACVNLIPQI
TSIYEWKGKIEEDSEVLMMIKTQSSLVPALTDFVRSVHPYEVAEVIALPVEQGNFPYLQWVRQVTESVSDSITVLP*

Gene Symbol:CUTA
Accession:NM_001014840
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGRAPAVLLGGVASLLLSFVWMPALLPVASRLLLLPRVLLTMASGSPPTQPSPASDSGSGYVPGSISAAFVTCPNEKV
AKEIARAVVEKRLAACVNLIPQITSIYEWKGKIEEDSEVLMMIKTQSSLVPALTDFVRSVHPYEVAEVIALPVEQGNFPY
LQWVRQVTESVSDSITVLP*

Gene Symbol:CUTA
Accession:NM_001014837
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALLPVASRLLLLPRVLLTMASGSPPTQPSPASDSGSGYVPGSISAAFVTCPNEKVAKEIARAVVEKRLAACVNLIPQI
TSIYEWKGKIEEDSEVLMMIKTQSSLVPALTDFVRSVHPYEVAEVIALPVEQGNFPYLQWVRQVTESVSDSITVLP*

Gene Symbol:CUTA
Accession:NM_001014433
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALLPVASRLLLLPRVLLTMASGSPPTQPSPASDSGSGYVPGSISAAFVTCPNEKVAKEIARAVVEKRLAACVNLIPQI
TSIYEWKGKIEEDSEVLMMIKTQSSLVPALTDFVRSVHPYEVAEVIALPVEQGNFPYLQWVRQVTESVSDSITVLP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002227657 CLINVAR
dbSNP (RS) rs2151116808 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CUTA CLINVAR
OMIM 616953 CLINVAR