RGD:151735977 Rat Genome Database

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Variant: RGD:151735977 -  Homo sapiens

RGD ID: 151735977
RS ID: rs150992119
ClinVar ID: CV1440839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAM3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 134,018,707
GRCh38 11 134,148,812
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001192258.1:p.Asp246=
NP_116190.3:p.Asp297=
NM_001205329.2:c.738C>T
NM_032801.5:c.891C>T
More...
11/27/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:JAM3
Accession:NM_032801
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVARNDRKEIDEIVIELTVQVKPVTPVCRVPKAVPVGKMATLHC
QESEGHPRPHYSWYRNDVPLPTDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDL
NIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGVNYIRTDEEGDFRHKSSFVI*

Gene Symbol:JAM3
Accession:NM_001205329
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 246
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 RCV001911405 CLINVAR
dbSNP (RS) rs150992119 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene JAM3 CLINVAR
OMIM 606871 CLINVAR