RGD:15148843 Rat Genome Database

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Variant: RGD:15148843 -  Homo sapiens

RGD ID: 15148843
RS ID: rs115804221
ClinVar ID: CV723832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTBP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 126,715,945
GRCh38 10 125,027,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001290214.3:c.58+11621G>A
NM_001290215.3:c.58+11621G>A
NM_001321012.2:c.58+11621G>A
NM_001321013.2:c.58+11621G>A
More... 		04/04/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CTBP2
Accession:XM_047424679
Location:5UTRS;INTRON

Gene Symbol:CTBP2
Accession:XM_011539358
Location:5UTRS;INTRON

Gene Symbol:CTBP2
Accession:NM_022802
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPSRHINIGRSQSWDAAGWYEGPWENAESLRPLGRRSSLTYGTAEGTWFEPNHRPQDAALPVAAEPYLYREAVYNSVA
ARKGSTPDFTFYDSRQAVMSGRSPLLPREYYSDPSGAARVPKEPPLYRDPGVSRPVPSYGVLGSRTSWDPMQGRSPALQD
AGHLYRDPGGKMIPQGRQTQSRAASPGRYGREQPDTRYGAEVPAYPLSQVFSDISERPIDPAPARQVAPTCLVVDPSSAA
APEGSTGVAPGALNRGYGPARESIPSKMAYETYEADLSTFQGPGGKRTVLPEFLAFLRAEGLAEATLGALLQQGFDSPAV
LATLEDADIKSVAPNLGQARVLSRLANSCRTEMQLRRQDRGGPLPRARSSSFSHRSELLHGDLASLGAAAPLQTASPRAG
DPARRPSSAPSQHLLETAATYSAPGVGTHAPHFPSNSGYSSPTPCALTARLSPTYPLQAGVALTNPGPSNPLHPGPRTAY
STAYTVPMELLKRERNVAASPLPSPHGSPQVLRKPGAPLGPSTLPPASQSLHTPHSPYQKVARRTGAPIIVSTMLAPEPS
IRPQIMNGPLHPRPLVALLDGRDCTVEMPILKDLATVAFCDAQSTQEIHEKVLNEAVGAMMYHTITLTREDLEKFKALRV
IVRIGSGYDNVDIKAAGELGIAVCNIPSAAVEETADSTICHILNLYRRNTWLYQALREGTRVQSVEQIREVASGAARIRG
ETLGLIGFGRTGQAVAVRAKAFGFSVIFYDPYLQDGIERSLGVQRVYTLQDLLYQSDCVSLHCNLNEHNHHLINDFTIKQ
MRQGAFLVNAARGGLVDEKALAQALKEGRIRGAALDVHESEPFSFAQGPLKDAPNLICTPHTAWYSEQASLEMREAAATE
IRRAITGRIPESLRNCVNKEFFVTSAPWSVIDQQAIHPELNGATYRYPPGIVGVAPGGLPAAMEGIIPGGIPVTHNLPTV
AHPSQAPSPNQPTKHGDNREHPNEQ*

Gene Symbol:CTBP2
Accession:XM_011539355
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001321014
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424668
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424666
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424680
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424678
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424665
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001083914
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424673
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_005269567
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001321012
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001363508
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424677
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424675
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001290214
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424674
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424664
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001290215
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424667
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424669
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424676
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_024447830
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424671
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424670
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001321013
Location:INTRON

Gene Symbol:CTBP2
Accession:XM_047424672
Location:INTRON

Gene Symbol:CTBP2
Accession:NM_001329
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000879038 CLINVAR
dbSNP (RS) rs115804221 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CTBP2 CLINVAR
OMIM 602619 CLINVAR