RGD:11603841 Rat Genome Database

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Variant: RGD:11603841 -  Homo sapiens

RGD ID: 11603841
RS ID: rs41366951
ClinVar ID: CV304423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 52,367,773
GRCh38 5 53,071,943
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000005.10:g.53071943C>T
NC_000005.9:g.52367773C>T
NP_002194.2:p.Pro747=
NM_002203.4:c.2241C>T
More... 		03/01/2022 non-coding transcript variant|synonymous variant likely benign all ages <1 / 1 000 000 COLLAGEN PLATELET RECEPTOR DEFICIENCY; GLYCOPROTEIN Ia DEFICIENCY; GP Ia DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITGA2
Accession:NM_002203
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 747
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPERTGAAPLPLLLVLALSQGILNCCLAYNVGLPEAKIFSGPSSEQFGYAVQQFINPKGNWLLVGSPWSGFPENRMGDV
YKCPVDLSTATCEKLNLQTSTSIPNVTEMKTNMSLGLILTRNMGTGGFLTCGPLWAQQCGNQYYTTGVCSDISPDFQLSA
SFSPATQPCPSLIDVVVVCDESNSIYPWDAVKNFLEKFVQGLDIGPTKTQVGLIQYANNPRVVFNLNTYKTKEEMIVATS
QTSQYGGDLTNTFGAIQYARKYAYSAASGGRRSATKVMVVVTDGESHDGSMLKAVIDQCNHDNILRFGIAVLGYLNRNAL
DTKNLIKEIKAIASIPTERYFFNVSDEAALLEKAGTLGEQIFSIEGTVQGGDNFQMEMSQVGFSADYSSQNDILMLGAVG
AFGWSGTIVQKTSHGHLIFPKQAFDQILQDRNHSSYLGYSVAAISTGESTHFVAGAPRANYTGQIVLYSVNENGNITVIQ
AHRGDQIGSYFGSVLCSVDVDKDTITDVLLVGAPMYMSDLKKEEGRVYLFTIKEGILGQHQFLEGPEGIENTRFGSAIAA
LSDINMDGFNDVIVGSPLENQNSGAVYIYNGHQGTIRTKYSQKILGSDGAFRSHLQYFGRSLDGYGDLNGDSITDVSIGA
FGQVVQLWSQSIADVAIEASFTPEKITLVNKNAQIILKLCFSAKFRPTKQNNQVAIVYNITLDADGFSSRVTSRGLFKEN
NERCLQKNMVVNQAQSCPEHIIYIQEPSDVVNSLDLRVDISLENPGTSPALEAYSETAKVFSIPFHKDCGEDGLCISDLV
LDVRQIPAAQEQPFIVSNQNKRLTFSVTLKNKRESAYNTGIVVDFSENLFFASFSLPVDGTEVTCQVAASQKSVACDVGY
PALKREQQVTFTINFDFNLQNLQNQASLSFQALSESQEENKADNLVNLKIPLLYDAEIHLTRSTNINFYEISSDGNVPSI
VHSFEDVGPKFIFSLKVTTGSVPVSMATVIIHIPQYTKEKNPLMYLTGVQTDKAGDISCNADINPLKIGQTSSSVSFKSE
NFRHTKELNCRTASCSNVTCWLKDVHMKGEYFVNVTTRIWNGTFASSTFQTVQLTAAAEINTYNPEIYVIEDNTVTIPLM
IMKPDEKAEVPTGVIIGSIIAGILLLLALVAILWKLGFFKRKYEKMTKNPDEIDETTELSS*

Gene Symbol:ITGA2
Accession:NR_073107
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073103
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073106
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073105
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073104
Location:EXON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303731 CLINVAR
  RCV000904121 CLINVAR
  RCV003902372 CLINVAR
dbSNP (RS) rs41366951 CLINVAR
MedGen C3280114 CLINVAR
  C3661900 CLINVAR
NCBI Gene ITGA2 CLINVAR
OMIM 192974 CLINVAR
  614200 CLINVAR