RGD:152055116 Rat Genome Database

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Variant: RGD:152055116 -  Homo sapiens

RGD ID: 152055116
RS ID: rs201299164
ClinVar ID: CV1633158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAM3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 134,015,885
GRCh38 11 134,145,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001205329.2:c.504C>T
NM_032801.5:c.657C>T
NG_028348.1:g.82066C>T
NC_000011.10:g.134145990C>T
More... 		09/27/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:JAM3
Accession:NM_032801
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVARNDRKEIDEIVIELTVQVKPVTPVCRVPKAVPVGKMATLHC
QESEGHPRPHYSWYRNDVPLPTDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDL
NIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGVNYIRTDEEGDFRHKSSFVI*

Gene Symbol:JAM3
Accession:NM_001205329
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQVKPVTPVCRVPKAVPVGKMATLHCQESEGHPRPHYSWYRNDVPLPTDSRANPRFRNSSFHLNSETGTLVFTAVHK
DDSGQYYCIASNDAGSARCEEQEMEVYDLNIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGV
NYIRTDEEGDFRHKSSFVI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002127682 CLINVAR
dbSNP (RS) rs201299164 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene JAM3 CLINVAR
OMIM 606871 CLINVAR