RGD:155905606 Rat Genome Database

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Variant: RGD:155905606 -  Homo sapiens

RGD ID: 155905606
ClinVar ID: CV2286118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAM3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 134,014,280
GRCh38 11 134,144,385
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.257-407C>G
NM_031470.1:c.401C>G
NM_032801.5:c.401C>G
NG_028348.1:g.80461C>G
More... 		05/18/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:JAM3
Accession:NM_032801
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVARNDRKEIDEIVIELSVQVKPVTPVCRVPKAVPVGKMATLHC
QESEGHPRPHYSWYRNDVPLPTDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDL
NIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGVNYIRTDEEGDFRHKSSFVI*

Gene Symbol:JAM3
Accession:NM_001205329
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002837170 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene JAM3 CLINVAR
OMIM 606871 CLINVAR