RGD:127258875 Rat Genome Database

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Variant: RGD:127258875 -  Homo sapiens

RGD ID: 127258875
RS ID: rs2134598139
ClinVar ID: CV1100264
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 6,640,116
GRCh38 11 6,618,885
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.6640116A>G
LRG_830p1:p.Arg40=
NP_000382.3:p.Arg40=
LRG_830t1:c.120T>C
More...
04/03/2019 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TPP1
Accession:NM_000391
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYL
TLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLP
QALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDL
AQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHV
HTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLIT
NEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPV
FGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTL
LNP*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001438251 CLINVAR
dbSNP (RS) rs2134598139 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 607998 CLINVAR