RGD:34894121 Rat Genome Database

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Variant: RGD:34894121 -  Homo sapiens

RGD ID: 34894121
RS ID: rs369868891
ClinVar ID: CV905772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEL  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 135,942,547
GRCh38 9 133,067,160
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.850C>G
NG_016394.1:g.10183C>G
NC_000009.12:g.133067160C>G
NC_000009.11:g.135942547C>G
More... 		09/11/2021 missense variant benign|likely benign Diabetes and pancreatic exocrine dysfunction; Diabetes mellitus MODY type 8; Diabetes-pancreatic exocrine dysfunction syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CEL
Accession:NM_001807
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTKALENPQPHPGWQGTLKAKNF
KKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPVMIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVT
FNYRVGPLGFLSTGDANLPGNYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQS
GVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPGALTLAYKVPLAGLEYPMLHYVGFVPVIDGDFIPADP
INLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVTEEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENK
KKTVVDFETDVLFLVPTEIALAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTV
SKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLRYWTLTYLALPTVTDQEATPV
PPTGDSEATPVPPTGDSETAPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPT
GDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDS
GAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001174433 CLINVAR
  RCV002491491 CLINVAR
dbSNP (RS) rs369868891 CLINVAR
MedGen C1853297 CLINVAR
  C3888631 CLINVAR
NCBI Gene CEL CLINVAR
OMIM 114840 CLINVAR
  609812 CLINVAR