RGD:156178113 Rat Genome Database

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Variant: RGD:156178113 -  Homo sapiens

RGD ID: 156178113
ClinVar ID: CV2331293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: P2RX5  P2RX5-TAX1BP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,593,953
GRCh38 17 3,690,659
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204520.2:c.310G>A
NM_175080.3:c.310G>A
NM_001204519.2:c.382G>A
NM_002561.4:c.382G>A
More... 		12/19/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:P2RX5
Accession:NM_001204520
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQAGCKGLCLSLFDYKTEKYVIAKNKKVGLLYRLLQASILAYLVVWVFLIKKGYQDVDTSLQSAVITKVKGVAFTNTSD
LGQRIWDVADYVIPAQNEGIPDGSCSKDSDCHAGEAVTAGNGVKTGRCLRRENLARGTCEIFAWCPLETSSRPEEPFLKE
AEDFTIFIKNHIRFPKFNFSKSNVMDVKDRSFLKSCHFGPKNHYCPIFRLGSVIRWAGSDFQDIALEGGVIGINIEWNCD
LDKAASECHPHYSFSRLDNKLSKSVSSGYNFRFARYYRDAAGVEFRTLMKAYGIRFDVMVNGKGAFFCDLVLIYLIKKRE
FYRDKKYEEVRGLEDSSQEAEDEASGLGLSEQLTSGPGLLGMPEQQELQEPPEAKRGSSSQKGNGSVCPQLLEPHRST*

Gene Symbol:P2RX5
Accession:NM_001204519
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQAGCKGLCLSLFDYKTEKYVIAKNKKVGLLYRLLQASILAYLVVWVFLIKKGYQDVDTSLQSAVITKVKGVAFTNTSD
LGQRIWDVADYVIPAQGENVFFVVTNLIVTPNQRQNVCAENEGIPDGSCSKDSDCHAGEAVTAGNGVKTGRCLRRENLAR
GTCEIFAWCPLETSSRPEEPFLKEAEDFTIFIKNHIRFPKFNFSNNVMDVKDRSFLKSCHFGPKNHYCPIFRLGSVIRWA
GSDFQDIALEGGVIGINIEWNCDLDKAASECHPHYSFSRLDNKLSKSVSSGYNFRFARYYRDAAGVEFRTLMKAYGIRFD
VMVNGKGAFFCDLVLIYLIKKREFYRDKKYEEVRGLEDSSQEAEDEASGLGLSEQLTSGPGLLGMPEQQELQEPPEAKRG
SSSQKGNGSVCPQLLEPHRST*

Gene Symbol:P2RX5
Accession:NM_175080
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQAGCKGLCLSLFDYKTEKYVIAKNKKVGLLYRLLQASILAYLVVWVFLIKKGYQDVDTSLQSAVITKVKGVAFTNTSD
LGQRIWDVADYVIPAQNEGIPDGSCSKDSDCHAGEAVTAGNGVKTGRCLRRENLARGTCEIFAWCPLETSSRPEEPFLKE
AEDFTIFIKNHIRFPKFNFSNNVMDVKDRSFLKSCHFGPKNHYCPIFRLGSVIRWAGSDFQDIALEGGVIGINIEWNCDL
DKAASECHPHYSFSRLDNKLSKSVSSGYNFRFARYYRDAAGVEFRTLMKAYGIRFDVMVNGKGAFFCDLVLIYLIKKREF
YRDKKYEEVRGLEDSSQEAEDEASGLGLSEQLTSGPGLLGMPEQQELQEPPEAKRGSSSQKGNGSVCPQLLEPHRST*

Gene Symbol:P2RX5
Accession:NM_002561
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQAGCKGLCLSLFDYKTEKYVIAKNKKVGLLYRLLQASILAYLVVWVFLIKKGYQDVDTSLQSAVITKVKGVAFTNTSD
LGQRIWDVADYVIPAQGENVFFVVTNLIVTPNQRQNVCAENEGIPDGSCSKDSDCHAGEAVTAGNGVKTGRCLRRENLAR
GTCEIFAWCPLETSSRPEEPFLKEAEDFTIFIKNHIRFPKFNFSKSNVMDVKDRSFLKSCHFGPKNHYCPIFRLGSVIRW
AGSDFQDIALEGGVIGINIEWNCDLDKAASECHPHYSFSRLDNKLSKSVSSGYNFRFARYYRDAAGVEFRTLMKAYGIRF
DVMVNGKGAFFCDLVLIYLIKKREFYRDKKYEEVRGLEDSSQEAEDEASGLGLSEQLTSGPGLLGMPEQQELQEPPEAKR
GSSSQKGNGSVCPQLLEPHRST*

Gene Symbol:P2RX5-TAX1BP3
Accession:NR_037928
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004181893 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene P2RX5 CLINVAR
  P2RX5-TAX1BP3 CLINVAR
OMIM 602836 CLINVAR