RGD:150404726 Rat Genome Database

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Variant: RGD:150404726 -  Homo sapiens

RGD ID: 150404726
RS ID: rs34800980
ClinVar ID: CV1194162
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 135,946,627
GRCh38 9 133,071,240
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.133071240G>C
NM_001807.3:c.1747G>C
NG_016394.1:g.14263G>C
NP_001798.3:p.Ala580Pro
More...
11/01/2023 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CEL
Accession:NM_001807
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 580
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTKALENPQPHPGWQGTLKAKNF
KKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPVMIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVT
FNYRVGPLGFLSTGDANLPGNYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQS
GVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPRALTLAYKVPLAGLEYPMLHYVGFVPVIDGDFIPADP
INLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVTEEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENK
KKTVVDFETDVLFLVPTEIALAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTV
SKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLRYWTLTYLALPTVTDQEATPV
PPTGDSEATPVPPTGDSETPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPT
GDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDS
GAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001571313 CLINVAR
dbSNP (RS) rs34800980 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CEL CLINVAR
OMIM 114840 CLINVAR