RGD:38597284 Rat Genome Database

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Variant: RGD:38597284 -  Homo sapiens

RGD ID: 38597284
RS ID: rs1428540462
ClinVar ID: CV965158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAT1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 80,932,692
GRCh38 9 78,317,776
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.78317776A>T
NP_478059.1:p.Ile281Phe
NC_000009.11:g.80932692A>T
NG_012165.1:g.25634A>T
More... 		missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PSAT1
Accession:NM_058179
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGC
GQFSAVPLNLIGLKAGRCADYVVTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGV
EFDFIPDVKGAVLVCDMSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLY
NTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEFIDNSQGFYVCPVEPQNRSKMNIPFRIGNAKGDDALEKRF
LDKALELNMLSLKGHRSVGGIRASLYNAVTIEDVQKLAAFMKKFLEMHQL*

Gene Symbol:PSAT1
Accession:NM_021154
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGC
GQFSAVPLNLIGLKAGRCADYVVTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGV
EFDFIPDVKGAVLVCDMSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLY
NTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEFIDNSQGFYVSVGGIRASLYNAVTIEDVQKLAAFMKKFLE
MHQL*
Variant Samples
Additional References at PubMed
PMID:32077105  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001254522 CLINVAR
dbSNP (RS) rs1428540462 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PSAT1 CLINVAR
OMIM 610936 CLINVAR