RGD:8646535 Rat Genome Database

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Variant: RGD:8646535 -  Homo sapiens

RGD ID: 8646535
RS ID: rs672601291
ClinVar ID: CV106008
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UMPS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 124,462,896
GRCh38 3 124,744,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017037.1:g.18684G>T
NC_000003.12:g.124744049G>T
NC_000003.11:g.124462896G>T
NC_000003.10:g.125945586G>T
More... 		missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:UMPS
Accession:NM_000373
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 470
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQVADILFQTAQNAGISFDTVCGVPYTALP
LATVICSTNQIPMLIRRKETKDYGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGK
DKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVA
SKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGN
TVKKQYEGGIFKIASWADLVNAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVGF
ISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKASWEAYLSRLGV
*

Gene Symbol:UMPS
Accession:NR_033434
Location:EXON;NON-CODING

Gene Symbol:UMPS
Accession:NR_033437
Location:EXON;NON-CODING

Gene Symbol:UMPS
Accession:XR_001740253
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000086514 CLINVAR
dbSNP (RS) rs672601291 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene UMPS CLINVAR
OMIM 613891 CLINVAR