RGD:38466576 Rat Genome Database

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Variant: RGD:38466576 -  Homo sapiens

RGD ID: 38466576
RS ID: rs370965183
ClinVar ID: CV949022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 78,401,626
GRCh38 15 78,109,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001288153.1:p.Cys104=
NP_001258818.1:p.Cys50=
NM_006383.3:c.297C>T
NM_001271889.2:c.150C>T
More... 		12/11/2023 non-coding transcript variant likely benign|uncertain significance none provided

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

Gene Symbol:CIB2
Accession:XM_011521161
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAE
APITRYL*

Gene Symbol:CIB2
Accession:NM_006383
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001301224
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKWGNRGSEGFGHSSRVTQAVHSLAPGPSCLSCTHSDCCVCFLQENPFKERIV
AAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEE
ADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271889
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLE
LTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_005254126
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAEAPITRYL*

Gene Symbol:CIB2
Accession:NM_001271888
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001230314 CLINVAR
  RCV003938569 CLINVAR
dbSNP (RS) rs370965183 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CIB2 CLINVAR
OMIM 605564 CLINVAR