RGD:38461698 Rat Genome Database

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Variant: RGD:38461698 -  Homo sapiens

RGD ID: 38461698
RS ID: rs753168881
ClinVar ID: CV918950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRNIP  SQSTM1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 179,264,486
GRCh38 5 179,837,486
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016175.4:c.937G>T
NG_011342.1:g.36099C>A
NM_001142298.2:c.*893C>A
NM_003900.5:c.*893C>A
More... 		10/22/2019 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SQSTM1
Accession:NM_003900
Location:3UTRS;EXON

Gene Symbol:SQSTM1
Accession:NM_001142298
Location:3UTRS;EXON

Gene Symbol:SQSTM1
Accession:NM_001142299
Location:3UTRS;EXON

Gene Symbol:MRNIP
Accession:NM_001017987
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLQRSRVLRCCSCRLFQAHQVKKSVKWTCKACGEKQSFLQEKSQPSESRWLKYLEKDSQELELEGTGVCFSKQPSSKM
EEPGPRFSQDLPRKRKWSRSTVQPPCSRGVQDSGGSEVAWGPQKGQAGLTWKVKQGSSPCLQENSADCSAGELRGPGKEL
WSPIQQVTATSSKWAQFVLPPRKSSHVDSEQPRSLQRDPRPAGPAQAKQGTPRAQASREGLSRPTAAVQLPRATHPVTSG
SERPCGKTSWDARTPWAKGGPLVLEAQNPRPTRLCDLFITGEDFDDDV*

Gene Symbol:MRNIP
Accession:NM_016175
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLQRSRVLRCCSCRLFQAHQVKKSVKWTCKACGEKQSFLQAYGEGSGADCRRHVQKLNLLQGQVSELPLRSLEETVSA
SEEENVGHQQAGNVKQQEKSQPSESRWLKYLEKDSQELELEGTGVCFSKQPSSKMEEPGPRFSQDLPRKRKWSRSTVQPP
CSRGVQDSGGSEVAWGPQKGQAGLTWKVKQGSSPCLQENSADCSAGELRGPGKELWSPIQQVTATSSKWAQFVLPPRKSS
HVDSEQPRSLQRDPRPAGPAQAKQGTPRAQASREGLSRPTAAVQLPRATHPVTSGSERPCGKTSWDARTPWAKGGPLVLE
AQNPRPTRLCDLFITGEDFDDDV*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001197855 CLINVAR
dbSNP (RS) rs753168881 CLINVAR
MedGen C4310693 CLINVAR
NCBI Gene MRNIP CLINVAR
  SQSTM1 CLINVAR
OMIM 601530 CLINVAR
  617145 CLINVAR
  617154 CLINVAR