RGD:13528145 Rat Genome Database

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Variant: RGD:13528145 -  Homo sapiens

RGD ID: 13528145
RS ID: rs766527065
ClinVar ID: CV513342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 20,943,056
GRCh38 14 20,474,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000261.2:p.Asn137Ser
LRG_91:g.10515A>G
NG_009631.1:g.10515A>G
NP_000261.2:p.Asn137Ser
More... 		12/03/2017 missense variant uncertain significance PNP deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNP
Accession:NM_000270
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVM
MQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHISLPGFSGQNPLRGPNDERFGDRFP
AMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSL
ITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625899 CLINVAR
dbSNP (RS) rs766527065 CLINVAR
MedGen C0268125 CLINVAR
NCBI Gene PNP CLINVAR
OMIM 164050 CLINVAR
  613179 CLINVAR
SNOMED CT 60743005 CLINVAR