RGD:12854348 Rat Genome Database

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Variant: RGD:12854348 -  Homo sapiens

RGD ID: 12854348
RS ID: rs1060499721
ClinVar ID: CV384514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GMPPB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 49,760,061
GRCh38 3 49,722,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033731.1:g.6347A>G
NC_000003.12:g.49722628T>C
NC_000003.11:g.49760061T>C
NM_021971.4:c.529A>G
More... 		02/21/2017 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GMPPB
Accession:NM_013334
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYVLSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVSL
WAGLGGERGGECACLPDKAYPLLEVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*

Gene Symbol:GMPPB
Accession:NM_021971
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYVLSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRM
ENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000449525 CLINVAR
dbSNP (RS) rs1060499721 CLINVAR
MedGen C0557874 CLINVAR
NCBI Gene GMPPB CLINVAR
OMIM 615320 CLINVAR