RGD:151750695 Rat Genome Database

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Variant: RGD:151750695 -  Homo sapiens

RGD ID: 151750695
RS ID: rs1161241107
ClinVar ID: CV1360875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAM3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 134,018,534
GRCh38 11 134,148,639
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.134148639C>T
NC_000011.9:g.134018534C>T
NP_001192258.1:p.Arg218Cys
NM_001205329.2:c.652C>T
More... 		08/30/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:JAM3
Accession:NM_001205329
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQVKPVTPVCRVPKAVPVGKMATLHCQESEGHPRPHYSWYRNDVPLPTDSRANPRFRNSSFHLNSETGTLVFTAVHK
DDSGQYYCIASNDAGSARCEEQEMEVYDLNIGGIIGGVLVVLAVLALITLGICCAYRCGYFINNKQDGESYKNPGKPDGV
NYIRTDEEGDFRHKSSFVI*

Gene Symbol:JAM3
Accession:NM_032801
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVARNDRKEIDEIVIELTVQVKPVTPVCRVPKAVPVGKMATLHC
QESEGHPRPHYSWYRNDVPLPTDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDL
NIGGIIGGVLVVLAVLALITLGICCAYRCGYFINNKQDGESYKNPGKPDGVNYIRTDEEGDFRHKSSFVI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001894299 CLINVAR
dbSNP (RS) rs1161241107 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene JAM3 CLINVAR
OMIM 606871 CLINVAR