RGD:15130747 Rat Genome Database

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Variant: RGD:15130747 -  Homo sapiens

RGD ID: 15130747
RS ID: rs149847102
ClinVar ID: CV711668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101927066  LOC127459968  TSPYL5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 98,289,666
GRCh38 8 97,277,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033512.3:c.407C>T
NC_000008.11:g.97277438G>A
NM_033512.2:c.407C>T
NP_277047.2:p.Pro136Leu
More... 		12/13/2017 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPYL5
Accession:NM_033512
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGRSRGRKSSRAKNRGKGRAKARVRPAPDDAPRDPDPSQYQSLGEDTQAAQVQAGAGWGGLEAAASAQLLRLGEEAACR
LPLDCGLALRARAAGDHGQAAARPGPGKAASLSERLAADTVFVGTAGTVGRPKNALRVGNRRGPAGKKAPETCSTAGRGP
QVIAGGRQKKGAAGENTSVSAGEEKKEERDAGSGPPATEGSMDTLENVQLKLENMNAQADRAYLRLSRKFGQLRLQHLER
RNHLIQNIPGFWGQAFQNHPQLASFLNSQEKEVLSYLNSLEVEELGLARLGYKIKFYFDRNPYFQNKVLIKEYGCGPSGQ
VVSRSTPIQWLPGHDLQSLSQGNPENNRSFFGWFSNHSSIESDKIVEIINEELWPNPLQFYLLSEGARVEKGKEKEGRQG
PGKQPMETTQPGVSQSN*

Gene Symbol:LOC101927066
Accession:NR_125390
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000964486 CLINVAR
dbSNP (RS) rs149847102 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 101927066 CLINVAR
  TSPYL5 CLINVAR
OMIM 614721 CLINVAR