RGD:15167383 Rat Genome Database

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Variant: RGD:15167383 -  Homo sapiens

RGD ID: 15167383
RS ID: rs1354027160
ClinVar ID: CV754890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,412,081
GRCh38 16 1,362,080
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032520.5:c.360C>A
NG_016985.1:g.15182C>A
NG_033129.1:g.57625G>T
NC_000016.10:g.1362080C>A
More... 		01/21/2019 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GNPTG
Accession:NM_032520
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYK
YEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYA
LTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000927077 CLINVAR
dbSNP (RS) rs1354027160 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 607838 CLINVAR