RGD:156120000 Rat Genome Database

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Variant: RGD:156120000 -  Homo sapiens

RGD ID: 156120000
ClinVar ID: CV2275884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: P2RY1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 152,554,084
GRCh38 3 152,836,295
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_635t1:c.513C>G
NM_002563.5:c.513C>G
LRG_635:g.6349C>G
NG_032896.2:g.6349C>G
More... 		05/13/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:P2RY1
Accession:NM_002563
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEVLWPAVPNGTDAAFLAGPGSSWGNSTVASTAAVSSSFKCALTKTGFQFYYLPAVYILVFIIGFLGNSVAIWMFVFHM
KPWSGISVYMFNLALADFLYVLTLPALIFYYFNKTDWIFGDAMCKLQRFIFHVNLYGSILFLTCISAHRYSGVVYPLKSL
GRLKKKNAICMSVLVWLIVVVAISPILFYSGTGVRKNKTITCYDTTSDEYLRSYFIYSMCTTVAMFCVPLVLILGCYGLI
VRALIYKDLDNSPLRRKSIYLVIIVLTVFAVSYIPFHVMKTMNLRARLDFQTPAMCAFNDRVYATYQVTRGLASLNSCVD
PILYFLAGDTFRRRLSRATRKASRRSEANLQSKSEDMTLNILPEFKQNGDTSL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004139543 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene P2RY1 CLINVAR
OMIM 601167 CLINVAR