RGD:156325787 Rat Genome Database

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Variant: RGD:156325787 -  Homo sapiens

RGD ID: 156325787
ClinVar ID: CV2054111
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 78,398,133
GRCh38 15 78,105,791
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.343C>T
NM_001271888.2:c.361C>T
NM_006383.4:c.490C>T
NM_001301224.2:c.505C>T
More... 		08/30/2022 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CIB2
Accession:NM_006383
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271889
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLE
LTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271888
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_005254126
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAEAPITRYL*

Gene Symbol:CIB2
Accession:NM_001301224
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKWGNRGSEGFGHSSRVTQAVHSLAPGPSCLSCTHSDCCVCFLQENPFKERIV
AAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEE
ADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_011521161
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAE
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 RCV002810385 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CIB2 CLINVAR
OMIM 605564 CLINVAR