RGD:15116468 Rat Genome Database

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Variant: RGD:15116468 -  Homo sapiens

RGD ID: 15116468
RS ID: rs755700171
ClinVar ID: CV733737
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UMPS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 124,462,784
GRCh38 3 124,743,937
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_033434.2:n.1162C>T
NR_033437.2:n.1415C>T
NC_000003.12:g.124743937C>T
NC_000003.11:g.124462784C>T
More... 		10/23/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UMPS
Accession:NM_000373
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQVADILFQTAQNAGISFDTVCGVPYTALP
LATVICSTNQIPMLIRRKETKDYGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGK
DKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVA
SKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGN
TVKKQYEGGIFKIASWADLVNAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVGF
ISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKAAWEAYLSRLGV
*

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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000895206 CLINVAR
dbSNP (RS) rs755700171 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene UMPS CLINVAR
OMIM 613891 CLINVAR