RGD:12896002 Rat Genome Database

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Variant: RGD:12896002 -  Homo sapiens

RGD ID: 12896002
RS ID: rs4985834
ClinVar ID: CV390241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGALS9B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 20,370,767
GRCh38 17 20,467,454
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.20467454G>C
NC_000017.10:g.20370767G>C
NP_001036150.1:p.Ser6Cys
NP_001354221.1:p.Ser6Cys
More... 		03/28/2016 missense variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LGALS9B
Accession:NM_001042685
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSGCQAPYLSPAVPFSGTIQGGLQDGFQITVNGAVLSSSGTRFAVDFQTGFSGNDIAFHFNPRFEDGGYVVCNTRQKG
RWGPEERKMHMPFQKGMPFDLCFLVQSSDFKVMVNGSLFVQYFHRVPFHRVDTISVNGSVQLSYISFQNPRTVPVQPAFS
TVPFSQPVCFPPRPRGRRQKPPSVRPANPAPITQTVIHTVQSASGQMFSTPAIPPMMYPHPAYPMPFITTIPGGLYPSKS
IILSGTVLPSAQRFHINLCSGSHIAFHMNPRFDENAVVRNTQINNSWGSEERSLPRKMPFVRGQSFSVWILCEAHCLKVA
VDGQHVFEYYHRLRNLPTINKLEVGGDIQLTHVQT*

Gene Symbol:LGALS9B
Accession:NM_001367292
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSGCQAPYLSPAVPFSGTIQGGLQDGFQITVNGAVLSSSGTRFAVDFQTGFSGNDIAFHFNPRFEDGGYVVCNTRQKG
RWGPEERKMHMPFQKGMPFDLCFLVQSSDFKVMVNGSLFVQYFHRVPFHRVDTISVNGSVQLSYISFQNPRTVPVQPAFS
TVPFSQPVCFPPRPRGRRQKPPSVRPANPAPITQTVIHTVQSASGQMFSQTPAIPPMMYPHPAYPMPFITTIPGGLYPSK
SIILSGTVLPSAQRFHINLCSGSHIAFHMNPRFDENAVVRNTQINNSWGSEERSLPRKMPFVRGQSFSVWILCEAHCLKV
AVDGQHVFEYYHRLRNLPTINKLEVGGDIQLTHVQT*
Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454747 CLINVAR
dbSNP (RS) rs4985834 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LGALS9B CLINVAR