RGD:405738245 Rat Genome Database

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Variant: RGD:405738245 -  Homo sapiens

RGD ID: 405738245
ClinVar ID: CV3333880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPRR2E  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 153,066,145
GRCh38 1 153,093,669
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001024209.4:c.83C>A
NG_033987.1:g.5860C>A
NC_000001.11:g.153093669G>T
NC_000001.10:g.153066145G>T
More... 		01/30/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SPRR2E
Accession:NM_001024209
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYQQQQCKQPCQPPPVCPTPKCPEPCQPPKCPEPCPPPKCPQPCPPQQCQQKCPPVTPSPPCQPKCPPKSK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004465280 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SPRR2E CLINVAR
OMIM 617588 CLINVAR