RGD:11089175 Rat Genome Database

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Variant: RGD:11089175 -  Homo sapiens

RGD ID: 11089175
RS ID: rs77370542
ClinVar ID: CV230606
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 78,401,620
GRCh38 15 78,109,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033006.1:g.27258G>A
NC_000015.10:g.78109278C>T
NC_000015.9:g.78401620C>T
NM_006383.2:c.303G>A
More... 		04/18/2019 non-coding transcript variant|synonymous variant benign AllHighlyPenetrant; none provided

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

Gene Symbol:CIB2
Accession:NM_006383
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271889
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLE
LTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271888
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_005254126
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAEAPITRYL*

Gene Symbol:CIB2
Accession:NM_001301224
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKWGNRGSEGFGHSSRVTQAVHSLAPGPSCLSCTHSDCCVCFLQENPFKERIV
AAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEE
ADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_011521161
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFI
CKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAE
APITRYL*

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

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000214477 CLINVAR
  RCV000991808 CLINVAR
dbSNP (RS) rs77370542 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CIB2 CLINVAR
OMIM 605564 CLINVAR