RGD:15133577 Rat Genome Database

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Variant: RGD:15133577 -  Homo sapiens

RGD ID: 15133577
RS ID: rs34499452
ClinVar ID: CV709222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSMO1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 166,259,056
GRCh38 4 165,337,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001017369.3:c.-23A>G
NC_000004.12:g.165337904A>G
NC_000004.11:g.166259056A>G
NM_006745.4:c.371A>G
More... 		12/13/2018 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MSMO1
Accession:NM_001017369
Location:5UTRS;EXON

Gene Symbol:MSMO1
Accession:NM_006745
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATNESVSIFSSASLAVEYVDSLLPENPLQEPFKNAWNYMLNNYTKFQIATWGSLIVHEALYFLFCLPGFLFQFIPYMKK
YKIQKDKPETWENQWKCFKVLLFNHFCIQLPLICGTYYFTEYFSIPYDWERMPRWYFLLARCFGCAVIEDTWHYFLHRLL
HHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLNPLNL
IPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE*

Gene Symbol:MSMO1
Accession:XM_005263176
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATNESVSIFSSASLAVEYVDSLLPENPLQEPFKNAWNYMLNNYTKFQIATWGSLIVHEALYFLFCLPGFLFQFIPYMKK
YKIQKDKPETWENQWKCFKVLLFNHFCIQLPLICGTYYFTEYFSIPYDWERMPRWYFLLARCFGCAVIEDTWHYFLHRLL
HHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLNPLNL
IPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000964976 CLINVAR
dbSNP (RS) rs34499452 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MSMO1 CLINVAR
OMIM 607545 CLINVAR