RGD:10050828 Rat Genome Database

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Variant: RGD:10050828 -  Homo sapiens

RGD ID: 10050828
RS ID: rs202141764
ClinVar ID: CV192503
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS33B  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 91,561,076
GRCh38 15 91,017,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012162.1:g.9758A>T
NC_000015.10:g.91017846T>A
NC_000015.9:g.91561076T>A
NP_061138.3:p.Met46Leu
More... 		10/13/2022 5 prime utr variant|intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VPS33B
Accession:NM_001289149
Location:5UTRS;EXON

Gene Symbol:VPS33B
Accession:XM_047432383
Location:5UTRS;EXON

Gene Symbol:VPS33B
Accession:XM_005254887
Location:5UTRS;INTRON

Gene Symbol:VPS33B
Accession:XM_047432384
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEADLLSPLDRIANVSILKQHEVDKLYKVENKPALSSNEQ
LCFLVRPRIKNMRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEF
FRDYFLEGDQRWINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTA
LCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDI
KQMKNFVSQELKGLKQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHADTGYVECWFLLEVLGVP*

Gene Symbol:VPS33B
Accession:NM_018668
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEADLLSPLDRIANVSILKQHEVDKLYKVENKPALSSNEQ
LCFLVRPRIKNMRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEF
FRDYFLEGDQRWINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTA
LCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDI
KQMKNFVSQELKGLKQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLM
CLLSITENGLIPKDYRSLKTQYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAK
RSNFRAISKKLNLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLERRSWQGLDEVVRLLNCSDFAFTDMTKEDKA
SSESLRLILVVFLGGCTFSEISALRFLGREKGYRFIFLTTAVTNSARLMEAMSEVKA*

Gene Symbol:VPS33B
Accession:XM_011521449
Location:INTRON

Gene Symbol:VPS33B
Accession:NM_001289148
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175904 CLINVAR
  RCV000355972 CLINVAR
dbSNP (RS) rs202141764 CLINVAR
MedGen C1859722 CLINVAR
  CN517202 CLINVAR
NCBI Gene VPS33B CLINVAR
OMIM 208085 CLINVAR
  608552 CLINVAR