RGD:38597273 Rat Genome Database

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Variant: RGD:38597273 -  Homo sapiens

RGD ID: 38597273
RS ID: rs1423962557
ClinVar ID: CV965102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 80,921,362
GRCh38 9 78,306,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021154.5:c.530T>C
NM_058179.4:c.530T>C
NG_012165.1:g.14304T>C
NC_000009.12:g.78306446T>C
More... 		missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PSAT1
Accession:NM_058179
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGC
GQFSAVPLNLIGLKAGRCADYVVTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGV
EFDFIPDVKGAVLVCDTSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLY
NTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEIIDNSQGFYVCPVEPQNRSKMNIPFRIGNAKGDDALEKRF
LDKALELNMLSLKGHRSVGGIRASLYNAVTIEDVQKLAAFMKKFLEMHQL*

Gene Symbol:PSAT1
Accession:NM_021154
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGC
GQFSAVPLNLIGLKAGRCADYVVTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGV
EFDFIPDVKGAVLVCDTSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLY
NTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEIIDNSQGFYVSVGGIRASLYNAVTIEDVQKLAAFMKKFLE
MHQL*
Variant Samples
Additional References at PubMed
PMID:32077105  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001254508 CLINVAR
dbSNP (RS) rs1423962557 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PSAT1 CLINVAR
OMIM 610936 CLINVAR