RGD:15115135 Rat Genome Database

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Variant: RGD:15115135 -  Homo sapiens

RGD ID: 15115135
RS ID: rs147519707
ClinVar ID: CV761715
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  TBCE  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 235,612,059
GRCh38 1 235,448,744
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287802.2:c.1227T>C
NM_152490.5:c.*1462A>G
NM_001079515.3:c.1566T>C
NM_003193.5:c.1566T>C
More... 		07/31/2018 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:B3GALNT2
Accession:NM_152490
Location:3UTRS;EXON

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:3UTRS;EXON

Gene Symbol:TBCE
Accession:NM_001287802
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 409
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPCELCFSCSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKF
PSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLI
AHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAET
ARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWEL
KTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDLKSLQ
FYSVENGDCLLVRW*

Gene Symbol:TBCE
Accession:NM_001287801
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 573
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTD
FLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDL
SKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEAHAQCGGSRHGLDMQKDASK
FVDLCVLQKCSTSNCIISAKDHTSMRMNVAKVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQ
LYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDK
EAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPE
DWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDL
KSLQFYSVENGDCLLVRW*

Gene Symbol:TBCE
Accession:NM_001079515
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 522
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTD
FLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDL
SKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNN
IFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQIS
QWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHK
DPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSR
LLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW*

Gene Symbol:TBCE
Accession:NM_003193
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 522
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTD
FLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDL
SKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNN
IFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQIS
QWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHK
DPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSR
LLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW*

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:INTRON

Gene Symbol:B3GALNT2
Accession:NM_001277155
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447005
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000939434 CLINVAR
dbSNP (RS) rs147519707 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
  TBCE CLINVAR
OMIM 604934 CLINVAR
  610194 CLINVAR