rs137853827 Rat Genome Database

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Variant: rs137853827 -  Homo sapiens

RGD ID: 8623913
RS ID: rs137853827
ClinVar ID: CV79000
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 1,412,690
GRCh38 16 1,362,689
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016985.1:g.15791C>G
NC_000016.10:g.1362689C>G
NC_000016.9:g.1412690C>G
NP_115909.1:p.Leu230Val
More... 		missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:GNPTG
Accession:NM_032520
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYK
YEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYA
LTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQVEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL*
Variant Samples
Additional References at PubMed
PMID:20147709  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000058938 CLINVAR
dbSNP (RS) rs137853827 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 607838 CLINVAR