RGD:151855388 Rat Genome Database

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Variant: RGD:151855388 -  Homo sapiens

RGD ID: 151855388
RS ID: rs771708419
ClinVar ID: CV1387490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 78,398,214
GRCh38 15 78,105,872
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.262A>G
NM_001271888.2:c.280A>G
NM_006383.4:c.409A>G
NM_001301224.2:c.424A>G
More... 		11/09/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CIB2
Accession:NM_006383
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTESELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271889
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLE
LTLARLTESELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271888
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTESELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_005254126
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTESELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAEAPITRYL*

Gene Symbol:CIB2
Accession:NM_001301224
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKWGNRGSEGFGHSSRVTQAVHSLAPGPSCLSCTHSDCCVCFLQENPFKERIV
AAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTESELDEEEVVLVCDKVIEE
ADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_011521161
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTESELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAE
APITRYL*

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

Gene Symbol:CIB2
Accession:XM_047432110
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001958526 CLINVAR
dbSNP (RS) rs771708419 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CIB2 CLINVAR
OMIM 605564 CLINVAR