rs769387722 Rat Genome Database

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Variant: rs769387722 -  Homo sapiens

RGD ID: 151819614
RS ID: rs769387722
ClinVar ID: CV1488361
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB1  LOC130057907  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 90,777,110
GRCh38 15 90,233,878
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277764.2:c.8G>A
NM_006384.4:c.8G>A
NC_000015.10:g.90233878C>T
NC_000015.9:g.90777110C>T
More... 		09/02/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CIB1
Accession:XM_006720375
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTS
PAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEES
DIDRDGTINLSEFQHVISRSPDFARYDSGPPSFWVPAGSDLLPLGLGHGYRRWCQGERKPQSPHTGPAKLAVSPRAGAAL
LVKTSPLPTAIVIALCLYSLVIKV*

Gene Symbol:CIB1
Accession:NM_006384
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTS
PAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEES
DIDRDGTINLSEFQHVISRSPDFASSFKIVL*

Gene Symbol:CIB1
Accession:NM_001277764
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDSGSRLSKELLAEYQDLTFLTKQEILLSVYVVLAPHLVDNEQQARSGNEHTGRPIAENTDSSPLSTRAHRRFCELLPQ
EQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDD
GTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDFASSFKIVL*

Gene Symbol:CIB1
Accession:NR_102427
Location:INTRON;NON-CODING

Gene Symbol:CIB1
Accession:NR_102428
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001975600 CLINVAR
dbSNP (RS) rs769387722 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CIB1 CLINVAR
  LOC130057907 CLINVAR
OMIM 602293 CLINVAR