RGD:151355052 Rat Genome Database

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Variant: RGD:151355052 -  Homo sapiens

RGD ID: 151355052
RS ID: rs199971842
ClinVar ID: CV1328119
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 135,939,823
GRCh38 9 133,064,436
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.99G>C
NC_000009.12:g.133064436G>C
NM_001807.4:c.108G>C
NG_016394.1:g.7459G>C
More... 		04/12/2019 synonymous variant likely benign AllHighlyPenetrant; 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: V to V (synonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTKALENPQPHPGWQGTLKAKNF
KKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPVMIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVT
FNYRVGPLGFLSTGDANLPGNYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQS
GVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPRALTLAYKVPLAGLEYPMLHYVGFVPVIDGDFIPADP
INLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVTEEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENK
KKTVVDFETDVLFLVPTEIALAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTV
SKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLRYWTLTYLALPTVTDQEATPV
PPTGDSEATPVPPTGDSETAPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPT
GDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDS
GAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001819595 CLINVAR
  RCV002482361 CLINVAR
dbSNP (RS) rs199971842 CLINVAR
MedGen C1853297 CLINVAR
  CN169374 CLINVAR
NCBI Gene CEL CLINVAR
OMIM 114840 CLINVAR
  609812 CLINVAR