RGD:12848553 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:12848553 -  Homo sapiens

RGD ID: 12848553
RS ID: rs1057524900
ClinVar ID: CV380266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,184,772
GRCh38 7 44,145,173
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008847.2:g.57998C>A
NC_000007.14:g.44145173G>T
NC_000007.13:g.44184772G>T
NP_000153.1:p.Ala454Glu
More... 		04/13/2021 missense variant likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_001354802
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVA*

Gene Symbol:GCK
Accession:NM_001354803
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRAGMGASLRPGTGPHPDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVM
RITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_033507
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL
GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI
DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ
NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE
ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE
DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354800
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 454
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVA*

Gene Symbol:GCK
Accession:XM_024446707
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVACKKA
CMLGQ*

Gene Symbol:GCK
Accession:NM_000162
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 454
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_033508
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 453
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG
TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK
GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV
ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS
EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV
MRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354801
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHP
SFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSEVACKKACMLGQ*
Variant Samples
Additional References at PubMed
PMID:14517956   PMID:16602010   PMID:17204055   PMID:20337973   PMID:22035297   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000445420 CLINVAR
  RCV001584122 CLINVAR
dbSNP (RS) rs1057524900 CLINVAR
MedGen C3888631 CLINVAR
  CN517202 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR