RGD:152068044 Rat Genome Database

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Variant: RGD:152068044 -  Homo sapiens

RGD ID: 152068044
RS ID: rs11558171
ClinVar ID: CV1660195
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GOT2  LOC127884168  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 58,768,129
GRCh38 16 58,734,225
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.4G>T
NM_002080.4:c.4G>T
NC_000016.10:g.58734225C>A
NC_000016.9:g.58768129C>A
More...
12/16/2021 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GOT2
Accession:NM_002080
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSV
RKAEAQIAAKNLDKEYLPIGGLAEFCKASAELALGENSEVLKSGRFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKP
TWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEIATVVKKRNLFA
FFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPP
LNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLKKEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSI
YMTKDGRISVAGVTSSNVGYLAHAIHQVTK*

Gene Symbol:GOT2
Accession:NM_001286220
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSV
RKFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKPTWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPE
QSVLLLHACAHNPTGVDPRPEQWKEIATVVKKRNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGL
YGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPPLNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLK
KEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSIYMTKDGRISVAGVTSSNVGYLAHAIHQVTK*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002147696 CLINVAR
dbSNP (RS) rs11558171 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GOT2 CLINVAR
OMIM 138150 CLINVAR