RGD:38597160 Rat Genome Database

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Variant: RGD:38597160 -  Homo sapiens

RGD ID: 38597160
RS ID: rs377282696
ClinVar ID: CV965065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAT1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 80,919,766
GRCh38 9 78,304,850
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012165.1:g.12708G>T
NM_021154.5:c.307G>T
NM_058179.4:c.307G>T
NC_000009.12:g.78304850G>T
More... 		missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PSAT1
Accession:NM_058179
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGC
GQFSAVPLNLIGLKAGRCADYVLTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGV
EFDFIPDVKGAVLVCDMSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLY
NTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEIIDNSQGFYVCPVEPQNRSKMNIPFRIGNAKGDDALEKRF
LDKALELNMLSLKGHRSVGGIRASLYNAVTIEDVQKLAAFMKKFLEMHQL*

Gene Symbol:PSAT1
Accession:NM_021154
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGC
GQFSAVPLNLIGLKAGRCADYVLTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGV
EFDFIPDVKGAVLVCDMSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLY
NTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEIIDNSQGFYVSVGGIRASLYNAVTIEDVQKLAAFMKKFLE
MHQL*
Variant Samples
Additional References at PubMed
PMID:32077105  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001254377 CLINVAR
dbSNP (RS) rs377282696 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PSAT1 CLINVAR
OMIM 610936 CLINVAR