RGD:15160742 Rat Genome Database

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Variant: RGD:15160742 -  Homo sapiens

RGD ID: 15160742
RS ID: rs151158281
ClinVar ID: CV738573
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MGP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 15,035,187
GRCh38 12 14,882,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000900.5:c.198C>T
NM_001190839.3:c.273C>T
NG_023331.2:g.8667C>T
NC_000012.12:g.14882253G>A
More... 		05/23/2019 synonymous variant benign|likely benign|uncertain significance none provided; Pulmonic stenosis brachytelephalangism and calcification of cartilages
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MGP
Accession:NM_000900
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSLILLAILAALAVVTLCYESHESMESYELNPFINRRNANTFISPQQRWRAKVQERIRERSKPVHELNREACDDYRLCE
RYAMVYGYNAAYNRYFRKRRGTK*

Gene Symbol:MGP
Accession:NM_001190839
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSLILLAILAALAVVTLCYGEWQKEENFGFDIVSVLSLNWHRAQESHESMESYELNPFINRRNANTFISPQQRWRAKVQ
ERIRERSKPVHELNREACDDYRLCERYAMVYGYNAAYNRYFRKRRGTK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000903207 CLINVAR
  RCV001110546 CLINVAR
  RCV003912899 CLINVAR
dbSNP (RS) rs151158281 CLINVAR
MedGen C1855607 CLINVAR
  C3661900 CLINVAR
NCBI Gene MGP CLINVAR
OMIM 154870 CLINVAR
  245150 CLINVAR