RGD:9690968 Rat Genome Database

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Variant: RGD:9690968 -  Homo sapiens

RGD ID: 9690968
RS ID: rs181741158
ClinVar ID: CV176302
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRIOBP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 38,155,462
GRCh38 22 37,759,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138632.2:c.1224G>A
NG_012857.1:g.67468G>A
NC_000022.11:g.37759455G>A
NC_000022.10:g.38155462G>A
More... 		08/13/2014 intron variant|synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TRIOBP
Accession:NM_138632
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGWKGPGQRRGKEGPEARRRAAERGGGGGGGGVPAPRSPAREPRPRSCLLLPPPWGAAMTPDLLNFKKGWMSILDEPGE
PPSPSLTTTSTSQWKKHWFVLTDSSLKYYRDSTAEEADELDGEIDLRSCTDVTEYAVQRNYGFQIHTKDAVYTLSAMTSG
IRRNWIEALRKTVRPTSAPDVTKLSDSNKENALHSYSTQKGPLKAGEQRAGSEVISRGGPRKADGQRQALDYVELSPLTQ
ASPQRARTPARTPDRLAKQEELERDLAQRSEERRKWFEATDSRTPEVPAGEGPRRGLGAPLTEDQQNRLSEEIEKKWQEL
EKLPLRENKRVPLTALLNQSRGERRGPPSDGHEALEKEVQALRAQLEAWRLQGEAPQSALRSQEDGHIPPGYISQLVGVI
TVPVLQTRPLSSERLCDLPKVTPPAGLKGGI*

Gene Symbol:TRIOBP
Accession:NM_001039141
Location:INTRON

Gene Symbol:TRIOBP
Accession:NM_007032
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000156666 CLINVAR
dbSNP (RS) rs181741158 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRIOBP CLINVAR
OMIM 609761 CLINVAR