RGD:15197915 Rat Genome Database

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Variant: RGD:15197915 -  Homo sapiens

RGD ID: 15197915
RS ID: rs748933110
ClinVar ID: CV752509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ROBO3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 124,740,593
GRCh38 11 124,870,697
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022370.4:c.1002C>T
NG_016214.1:g.10289C>T
NC_000011.10:g.124870697C>T
NC_000011.9:g.124740593C>T
More... 		03/29/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ROBO3
Accession:NM_022370
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPEDAMPRIVEQPPDLLVSRGEP
ATLPCRAEGRPRPNIEWYKNGARVATVREDPRAHRLLLPSGALFFPRIVHGRRARPDEGVYTCVARNYLGAAASRNASLE
VAVLRDDFRQSPGNVVVAVGEPAVLECVPPRGHPEPSVSWRKDGARLKEEEGRITIRGGKLMMSHTLKSDAGMYVCVASN
MAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCEVKGDPPPRLRWRKEDGELPTGRYEIRSDHSLWIGHVSAED
EGTYTCVAENSVGRAEASGSLSVHVPPQLVTQPQDQMAAPGESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGR
FSVSPRGQLNITAVQRGDAGYYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQP
SVRWKKDGQWLQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKSSTGEATWSGWLKMREDWGVSPDPPTEPSSPPGAPS
QPVVTEITKNSITLTWKPNPQTGAAVTSYVIEAFSPAAGNTWRTVADGVQLETHTVSGLQPNTIYLFLVRAVGAWGLSEP
SPVSEPVRTQDSSPSRPVEDPWRGQQGLAEVAVRLQEPIVLGPRTLQVSWTVDGPVQLVQGFRVSWRVAGPEGGSWTMLD
LQSPSQQSTVLRGLPPGTQIQIKVQAQGQEGLGAESLSVTRSIPEEAPSGPPQGVAVALGGDGNSSITVSWEPPLPSQQN
GVITEYQIWCLGNESRFHLNRSAAGWARSAMLRGLVPGLLYRTLVAAATSAGVGVPSAPVLVQLPSPPDLEPGLEVGAGL
AVRLARVLREPAFLAGSGAACGALLLGLCAALYWRRKQRKELSHYTASFAYTPAVSFPHSEGLSGASSRPPMGLGPAPYS
WLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQTFHGGFPQHP
SGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPEEWCPPMPER
SHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVSQPMLGIREA
RPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPPLPPPEEEAS
WALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRGSSSSRGSRG
PGRSRSRSQSRSQSQRPGQKRREEPR*

Gene Symbol:ROBO3
Accession:NM_001370357
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370366
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370358
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370361
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370364
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370359
Location:INTRON

Gene Symbol:ROBO3
Accession:NM_001370356
Location:INTRON

Gene Symbol:ROBO3
Accession:NR_163409
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163411
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163410
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163415
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163413
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163414
Location:INTRON;NON-CODING

Gene Symbol:ROBO3
Accession:NR_163412
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000912109 CLINVAR
dbSNP (RS) rs748933110 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ROBO3 CLINVAR
OMIM 608630 CLINVAR