RGD:14735442 Rat Genome Database

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Variant: RGD:14735442 -  Homo sapiens

RGD ID: 14735442
RS ID: rs143034537
ClinVar ID: CV640593
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 109,547,637
GRCh38 12 109,109,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003362.4:c.778C>T
NM_080911.3:c.805C>T
LRG_124:g.17223C>T
NG_007284.1:g.17223C>T
More... 		11/14/2018 missense variant uncertain significance Hyper-IgM Immunodeficiency Syndrome, Type 5; Immunodeficiency with hyper IgM type 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UNG
Accession:NM_003362
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVFCLGPWGLGRKLRTPGKGPLQLLSRLCGDHLQAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAAALLRLAARN
VPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPNQAHGLCFSV
QRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVSWLNQNSNGL
VFLLWGSYAQKKGSAIDRKWHHVLQTAHPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL*

Gene Symbol:UNG
Accession:NM_080911
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAA
ALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPN
QAHGLCFSVQRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVS
WLNQNSNGLVFLLWGSYAQKKGSAIDRKWHHVLQTAHPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000803154 CLINVAR
dbSNP (RS) rs143034537 CLINVAR
MedGen C1720958 CLINVAR
NCBI Gene UNG CLINVAR
OMIM 191525 CLINVAR
  608106 CLINVAR