RGD:152060453 Rat Genome Database

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Variant: RGD:152060453 -  Homo sapiens

RGD ID: 152060453
RS ID: rs139235307
ClinVar ID: CV1650609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GOT2  LOC126862363  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 58,752,137
GRCh38 16 58,718,233
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286220.2:c.536G>A
NM_002080.4:c.665G>A
NC_000016.10:g.58718233C>T
NC_000016.9:g.58752137C>T
More... 		12/16/2021 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GOT2
Accession:NM_002080
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSV
RKAEAQIAAKNLDKEYLPIGGLAEFCKASAELALGENSEVLKSGRFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKP
TWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPEQSVLLLHACAHNPTGVDPHPEQWKEIATVVKKRNLFA
FFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPP
LNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLKKEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSI
YMTKDGRISVAGVTSSNVGYLAHAIHQVTK*

Gene Symbol:GOT2
Accession:NM_001286220
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSV
RKFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKPTWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPE
QSVLLLHACAHNPTGVDPHPEQWKEIATVVKKRNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGL
YGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPPLNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLK
KEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSIYMTKDGRISVAGVTSSNVGYLAHAIHQVTK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002128279 CLINVAR
dbSNP (RS) rs139235307 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GOT2 CLINVAR
  LOC126862363 CLINVAR
OMIM 138150 CLINVAR