RGD:405738257 Rat Genome Database

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Variant: RGD:405738257 -  Homo sapiens

RGD ID: 405738257
ClinVar ID: CV3333882
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPRR2E  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 153,066,134
GRCh38 1 153,093,658
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.94T>G
NG_033987.1:g.5871T>G
NC_000001.11:g.153093658A>C
NC_000001.10:g.153066134A>C
More... 		02/26/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SPRR2E
Accession:NM_001024209
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYQQQQCKQPCQPPPVCPTPKCPEPCPPPKGPEPCPPPKCPQPCPPQQCQQKCPPVTPSPPCQPKCPPKSK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004465282 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SPRR2E CLINVAR
OMIM 617588 CLINVAR