RGD:15139136 Rat Genome Database

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Variant: RGD:15139136 -  Homo sapiens

RGD ID: 15139136
RS ID: rs1589948570
ClinVar ID: CV784098
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 6,638,245
GRCh38 11 6,617,014
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000391.4:c.648G>A
NG_008653.1:g.7448G>A
NC_000011.10:g.6617014C>T
NC_000011.9:g.6638245C>T
More... 		12/24/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TPP1
Accession:NM_000391
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 216
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 RCV000982583 CLINVAR
dbSNP (RS) rs1589948570 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 607998 CLINVAR