RGD:38597243 Rat Genome Database

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Variant: RGD:38597243 -  Homo sapiens

RGD ID: 38597243
RS ID: rs1388260896
ClinVar ID: CV965179
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 80,943,053
GRCh38 9 78,328,137
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.78328137G>A
NC_000009.11:g.80943053G>A
NM_021154.5:c.870-844G>A
NG_012165.1:g.35995G>A
More... 		intron variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PSAT1
Accession:NM_058179
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 319
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGC
GQFSAVPLNLIGLKAGRCADYVVTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGV
EFDFIPDVKGAVLVCDMSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLY
NTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEIIDNSQGFYVCPVEPQNRSKMNIPFRIGNAKGDDALEKKF
LDKALELNMLSLKGHRSVGGIRASLYNAVTIEDVQKLAAFMKKFLEMHQL*

Gene Symbol:PSAT1
Accession:NM_021154
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:32077105  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001254475 CLINVAR
dbSNP (RS) rs1388260896 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PSAT1 CLINVAR
OMIM 610936 CLINVAR