RGD:38475305 Rat Genome Database

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Variant: RGD:38475305 -  Homo sapiens

RGD ID: 38475305
RS ID: rs587784392
ClinVar ID: CV930490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,393,286
GRCh38 1 42,927,615
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006516.4:c.1268A>C
LRG_1132:g.36562A>C
NG_008232.1:g.36562A>C
NC_000001.11:g.42927615T>G
More...
09/04/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC2A1
Accession:NM_006516
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGS
FSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLH
QLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAF
TVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPR
PAAIAVAGFSNWTSNFIVGMCFPYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001204221 CLINVAR
dbSNP (RS) rs587784392 CLINVAR
MedGen C3149117 CLINVAR
NCBI Gene SLC2A1 CLINVAR
OMIM 138140 CLINVAR