rs1039291038 Rat Genome Database

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Variant: rs1039291038 -  Homo sapiens

RGD ID: 127245422
RS ID: rs1039291038
ClinVar ID: CV1103480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,402,246
GRCh38 16 1,352,245
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.117C>T
NG_016985.1:g.5347C>T
NC_000016.10:g.1352245C>T
NC_000016.9:g.1402246C>T
More... 		10/30/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GNPTG
Accession:NM_032520
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 39
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 RCV001435210 CLINVAR
dbSNP (RS) rs1039291038 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 607838 CLINVAR