RGD:405866872 Rat Genome Database

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Variant: RGD:405866872 -  Homo sapiens

RGD ID: 405866872
ClinVar ID: CV2842383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ISY1  ISY1-RAB43  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 128,855,993
GRCh38 3 129,137,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_020701.4:c.419-2196T>C
NM_001199469.2:c.465T>C
NC_000003.12:g.129137150A>G
NC_000003.11:g.128855993A>G
More... 		intron variant likely benign

Gene Symbol:ISY1
Accession:NM_001199469
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARNAEKAMTALARFRQAQLEEGKVKERRPFLASECTELPKAEKWRRQIIGEISKKVAQIQNAGLGEFRIRDLNDEINKL
LREKGHWEVRIKELGGPDYGKVGPKMLDHEGKEVPGNRGYKYFGAAKDLPGVRELFEKERQVRWLMPVIPALWEAEAGGS
QALPPPRKTRAELMKAIDFEYYGYLDEDDGVIVPLEQEYEKKLRAELVEKWKAEREARLARGEKEEEEEEEEEINIYAVT
EEESDEEGSQEKGGDDSQQKFIAHVPVPSQQEIEEALVRRKKMELLQKYASETLQAQSEEARRLLGY*

Gene Symbol:ISY1
Accession:NM_020701
Location:INTRON

Gene Symbol:ISY1-RAB43
Accession:NM_001204890
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV004557740 CLINVAR
NCBI Gene ISY1 CLINVAR
  ISY1-RAB43 CLINVAR
OMIM 612764 CLINVAR