RGD:127303315 Rat Genome Database

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Variant: RGD:127303315 -  Homo sapiens

RGD ID: 127303315
RS ID: rs762396354
ClinVar ID: CV1145553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MESP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 90,320,365
GRCh38 15 89,777,134
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1304t1:c.777G>A
NM_001039958.2:c.777G>A
LRG_1304:g.21544G>A
NG_008608.2:g.21544G>A
More... 		10/14/2020 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MESP2
Accession:NM_001039958
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 259
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQSPPPQSLLGHDHWIFAQGWGWAGHWDSTSPASSSDSSGSCPCDGARGLPQPQPPSCSSRAAEAAATTPRRARTGPAG
GQRQSASEREKLRMRTLARALHELRRFLPPSLAPAGQSLTKIETLRLAIRYIGHLSAVLGLSEESLQCRRRQRGDAGSPW
GCPLCPDRGPAEAQTQAEGQGQGQGQGQGQGQGQGQGQGQGQGQGRRPGLVSAVLAEASWGSPSACPGAQAAPERLGRGV
HDTDPWATPPYCPKIQSPPYSSQGTTSDASLWTPPQGCPWTQSSPEPRNPPVPWTAAPATLELAAVYQGLSVSPEPCLSL
GAPSLLPHPSCQRLQPQTPGRCWSHSAEVVPNSEDQGPGAAFQLSEASPPQSSGLRFSGCPELWQEDLEGARLGIFY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001499369 CLINVAR
dbSNP (RS) rs762396354 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MESP2 CLINVAR
OMIM 605195 CLINVAR