RGD:13788499 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:13788499 -  Homo sapiens

RGD ID: 13788499
RS ID: rs539911116
ClinVar ID: CV545921
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 118,896,760
GRCh38 11 119,026,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001157750.1:p.His301Asp
NP_001157752.1:p.His301Asp
NM_001164277.1:c.901C>G
LRG_187t1:c.901C>G
More... 		08/23/2022 missense variant uncertain significance Congenital disorder of glycosylation, type IIw; Congenital disorder of glycosylation, type IIw; Glucose-6-phosphate transport defect; Glycogen storage disease Ib; GLYCOGEN STORAGE DISEASE Ic; Glycogen storage disease type 1B; GSD Ib; GSD Ic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001467
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 301

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSRWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 301

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSRWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164279
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 228

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGP
ILATILAQSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWL
PCGVWSKDLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSRWPVAVHDGWHDS
VHVPLPGNSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQL
EHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 301

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSRWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 301

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSRWPVAVHDGWHDSVHVPLPG
NSDQ*LPQGCCFLDSGSSPSRGAHRLYRA*ALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRL
SGWAALQHHCQALQLEHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665412 CLINVAR
  RCV002493083 CLINVAR
dbSNP (RS) rs539911116 CLINVAR
MedGen C0268146 CLINVAR
  C0342749 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  232240 CLINVAR
  602671 CLINVAR
  619525 CLINVAR
SNOMED CT 237965005 CLINVAR
  30102006 CLINVAR