RGD:401728068 Rat Genome Database

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Variant: RGD:401728068 -  Homo sapiens

RGD ID: 401728068
ClinVar ID: CV2675938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTMR9  SLC35G5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 11,189,004
GRCh38 8 11,331,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_054028.1:c.389C>A
NP_473369.1:p.Ala130Asp
NM_054028.2:c.389C>A
NC_000008.11:g.11331495C>A
More... 		04/25/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC35G5
Accession:NM_054028
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSHPYFNLPDSTHPSPPSAPPSLRWHQRCQPSGATNGLLVALLGGGLPAGFVGPLSRMAYQGSNLPSLELLICRCLFH
LPIALLLKLRGDPLLGPPDIRGWACFCALLNVLSIGCAYSAVQVVPAGNDATVRKGSSTVCSAVLTLCLESQGLGGYEWC
GLLGSILGLIIILGPGLWTLQEGTTGVYTTLGYVQAFLGGLALSLGLLVYRSLHFPSCLPTVAFLSGLVGLLGCVPGLFV
LQTPVLPSDLLSWSCVGAEGILALVSFTCVGYAVTKAHPALVCAVLHSEVVVALILQYYMLHETVALSDIMGAGVVLGSI
AIITARNLSCERTGKVEE*

Gene Symbol:MTMR9
Accession:XM_011543831
Location:INTRON

Gene Symbol:MTMR9
Accession:XM_047422125
Location:INTRON

Gene Symbol:MTMR9
Accession:NM_015458
Location:INTRON

Gene Symbol:MTMR9
Accession:XM_017013753
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003247290 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MTMR9 CLINVAR
  SLC35G5 CLINVAR
OMIM 606260 CLINVAR
  615199 CLINVAR