RGD:15173813 Rat Genome Database

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Variant: RGD:15173813 -  Homo sapiens

RGD ID: 15173813
RS ID: rs142644786
ClinVar ID: CV742669
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RRP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,217,423
GRCh38 21 43,797,542
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003683.6:c.543C>T
NG_046959.1:g.13008C>T
NC_000021.9:g.43797542C>T
NC_000021.8:g.45217423C>T
More... 		03/29/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RRP1
Accession:XM_017028485
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSRVQLPPEIQLAQRLAGNEQVTRDRAVRKLRKYIVARTQRAAGGFTHDELLKVWKGLFYCMWMQDKPLLQEELGRTIS
QLVHAFQTTEAQHLFLQAFWQTMNREWTGIDRLRLDKFYMLMRMVLNESLKVLKMQGWEERQIEELLELLMTEILHPSSQ
APNGVKSHFIEIFLEELTKVGAEELTADQNLKFIDPFCRIAARTKDSLVLNNITRGIFETIVEQAPLAIEDLLNELDTQD
EEVASDSDESSEGGERGDALSQKRSEKPPAGSICRAEPEAGEEQAGDDRDSGGPVLQFDYEAVANRLFEMASRQSTPSQN
RKRLYKVIRKLQDLAGGIFPEDEIPEKACRRLLEGRRQKKTKKQKRLLRLQQERALAEVLSRVDGAWRPHWTRDASGWLL
WPCCPPRSVVLASSA*

Gene Symbol:RRP1
Accession:NM_003683
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSRVQLPPEIQLAQRLAGNEQVTRDRAVRKLRKYIVARTQRAAGGFTHDELLKVWKGLFYCMWMQDKPLLQEELGRTIS
QLVHAFQTTEAQHLFLQAFWQTMNREWTGIDRLRLDKFYMLMRMVLNESLKVLKMQGWEERQIEELLELLMTEILHPSSQ
APNGVKSHFIEIFLEELTKVGAEELTADQNLKFIDPFCRIAARTKDSLVLNNITRGIFETIVEQAPLAIEDLLNELDTQD
EEVASDSDESSEGGERGDALSQKRSEKPPAGSICRAEPEAGEEQAGDDRDSGGPVLQFDYEAVANRLFEMASRQSTPSQN
RKRLYKVIRKLQDLAGGIFPEDEIPEKACRRLLEGRRQKKTKKQKRLLRLQQERGKGEKEPPSPGMERKRSRRRGVGADP
EARAEAGEQPGTAERALLRDQPRGRGQRGARQRRRTPRPLTSARAKAANVQEPEKKKKRRE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000905897 CLINVAR
dbSNP (RS) rs142644786 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RRP1 CLINVAR
OMIM 610653 CLINVAR