RGD:10050753 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:10050753 -  Homo sapiens

RGD ID: 10050753
RS ID: rs794727278
ClinVar ID: CV192403
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCCS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 11,130,275
GRCh38 X 11,112,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016460.1:g.5861T>C
NC_000023.11:g.11112155T>C
NC_000023.10:g.11130275T>C
NP_001116080.1:p.Met32Thr
More... 		03/06/2015 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HCCS
Accession:NM_001122608
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSPSAPAVAVQASNASASPPSGCPMHEGKTKGCPVNTEPSGPTCEKKTYSVPAHQERAYEYVECPIRGTAAENKENLD
PSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQ
AWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQF
TILDVRPALDSLSAVWDRMKVAWWRWTS*

Gene Symbol:HCCS
Accession:NM_005333
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSPSAPAVAVQASNASASPPSGCPMHEGKTKGCPVNTEPSGPTCEKKTYSVPAHQERAYEYVECPIRGTAAENKENLD
PSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQ
AWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQF
TILDVRPALDSLSAVWDRMKVAWWRWTS*

Gene Symbol:HCCS
Accession:NM_001171991
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSPSAPAVAVQASNASASPPSGCPMHEGKTKGCPVNTEPSGPTCEKKTYSVPAHQERAYEYVECPIRGTAAENKENLD
PSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQ
AWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQF
TILDVRPALDSLSAVWDRMKVAWWRWTS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000175802 CLINVAR
dbSNP (RS) rs794727278 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HCCS CLINVAR
OMIM 300056 CLINVAR