RGD:28890754 Rat Genome Database

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Pathways
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Variant: RGD:28890754 -  Homo sapiens

RGD ID: 28890754
RS ID: rs144998443
ClinVar ID: CV894430
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 52,355,706
GRCh38 5 53,059,876
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_073103.2:n.1293T>C
NM_002203.3:c.1176T>C
NP_002194.2:p.Asp392=
NR_073105.2:n.1293T>C
More... 		01/12/2018 non-coding transcript variant likely benign COLLAGEN PLATELET RECEPTOR DEFICIENCY; GLYCOPROTEIN Ia DEFICIENCY; GP Ia DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITGA2
Accession:NM_002203
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 392
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_073106
Location:EXON;NON-CODING

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001152547 CLINVAR
dbSNP (RS) rs144998443 CLINVAR
MedGen C3280114 CLINVAR
NCBI Gene ITGA2 CLINVAR
OMIM 192974 CLINVAR
  614200 CLINVAR