RGD:156391770 Rat Genome Database

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Variant: RGD:156391770 -  Homo sapiens

RGD ID: 156391770
ClinVar ID: CV2382563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 135,946,636
GRCh38 9 133,071,249
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001807.6:c.1747C>A
NG_016394.1:g.14272C>A
NC_000009.12:g.133071249C>A
NC_000009.11:g.135946636C>A
More... 		10/12/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CEL
Accession:NM_001807
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 583
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTKALENPQPHPGWQGTLKAKNF
KKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPVMIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVT
FNYRVGPLGFLSTGDANLPGNYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQS
GVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPRALTLAYKVPLAGLEYPMLHYVGFVPVIDGDFIPADP
INLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVTEEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENK
KKTVVDFETDVLFLVPTEIALAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTV
SKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLRYWTLTYLALPTVTDQEATPV
PPTGDSEATPVPPTGDSETAPVTPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPT
GDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDS
GAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002724915 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CEL CLINVAR
OMIM 114840 CLINVAR