RGD:126744365 Rat Genome Database

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Variant: RGD:126744365 -  Homo sapiens

RGD ID: 126744365
ClinVar ID: CV1021613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM199  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 26,684,721
GRCh38 17 28,357,698
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_152464.3:c.28C>T
NC_000017.10:g.26684721C>T
NM_152464.1:c.28C>T
NP_689677.1:p.Arg10Ter
More... 		07/16/2018 nonsense pathogenic CDG IIp; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp

Gene Symbol:TMEM199
Accession:NM_152464
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSLLAGE*LVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELL
EGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAA
FVCTYLGSQYIFTEMASRVLAALIVASVVGLAELYVMVRAMEGELGEL*
.