RGD:15176862 Rat Genome Database

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Variant: RGD:15176862 -  Homo sapiens

RGD ID: 15176862
RS ID: rs776852485
ClinVar ID: CV768873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNG  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 109,536,389
GRCh38 12 109,098,584
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.258A>G
NM_080911.3:c.285A>G
NG_007284.1:g.5975A>G
NC_000012.12:g.109098584A>G
More... 		09/25/2018 synonymous variant likely benign 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: G to G (synonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVFCLGPWGLGRKLRTPGKGPLQLLSRLCGDHLQAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAAALLRLAARN
VPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPNQAHGLCFSV
QRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVSWLNQNSNGL
VFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL*

Gene Symbol:UNG
Accession:NM_080911
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAA
ALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPN
QAHGLCFSVQRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVS
WLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000929016 CLINVAR
dbSNP (RS) rs776852485 CLINVAR
MedGen C1720958 CLINVAR
NCBI Gene UNG CLINVAR
OMIM 191525 CLINVAR
  608106 CLINVAR