RGD:26890740 Rat Genome Database

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Variant: RGD:26890740 -  Homo sapiens

RGD ID: 26890740
RS ID: rs147498144
ClinVar ID: CV842732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 78,401,696
GRCh38 15 78,109,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271889.2:c.80C>T
NM_001271888.2:c.98C>T
NG_033006.1:g.27182C>T
NC_000015.10:g.78109354G>A
More... 		12/11/2019 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CIB2
Accession:XM_047432110
Location:3UTRS;EXON

Gene Symbol:CIB2
Accession:NM_006383
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVVAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271889
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQENPFKERIVVAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLE
LTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271888
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVVAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_005254126
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVVAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAEAPITRYL*

Gene Symbol:CIB2
Accession:NM_001301224
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKWGNRGSEGFGHSSRVTQAVHSLAPGPSCLSCTHSDCCVCFLQENPFKERIV
VAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEE
ADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_011521161
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVVAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAE
APITRYL*

Gene Symbol:CIB2
Accession:NR_125435
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001059683 CLINVAR
  RCV002553382 CLINVAR
dbSNP (RS) rs147498144 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene CIB2 CLINVAR
OMIM 605564 CLINVAR