rs1126643 Rat Genome Database

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Variant: rs1126643 -  Homo sapiens

RGD ID: 11583110
RS ID: rs1126643
ClinVar ID: CV304071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 52,347,369
GRCh38 5 53,051,539
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.53051539C>T
NC_000005.9:g.52347369C>T
NP_002194.2:p.Phe253=
NM_002203.4:c.759C>T
More... 		11/12/2018 non-coding transcript variant|synonymous variant 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

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90002401 Platelet distribution width 408,112 British individuals T 0.400731 1E-10 10.0 Affymetrix [93095623] (imputed) 0.0148544 platelet component distribution width (EFO:0007984)
 PMID:32888494

Variant Details
Variant Transcripts
Gene Symbol:ITGA2
Accession:NM_002203
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 253
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_073103
Location:EXON;NON-CODING

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000264523 CLINVAR
  RCV001683407 CLINVAR
dbSNP (RS) rs1126643 CLINVAR
GWAS Catalog GCST90002401 GWAS Catalog
MedGen C3280114 CLINVAR
  C3661900 CLINVAR
NCBI Gene ITGA2 CLINVAR
OMIM 192974 CLINVAR
  614200 CLINVAR