RGD:15106535 Rat Genome Database

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Variant: RGD:15106535 -  Homo sapiens

RGD ID: 15106535
RS ID: rs761555605
ClinVar ID: CV786333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITPA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 3,193,851
GRCh38 20 3,213,205
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001324237.2:c.-235T>C
NM_001324236.2:c.-274-53T>C
NM_001324238.2:c.-274-53T>C
NM_001351739.2:c.-274-53T>C
More... 		12/15/2018 5 prime utr variant likely benign INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITPA
Accession:NM_001324237
Location:5UTRS;EXON

Gene Symbol:ITPA
Accession:NM_001324236
Location:5UTRS;INTRON

Gene Symbol:ITPA
Accession:NM_001324238
Location:5UTRS;INTRON

Gene Symbol:ITPA
Accession:NM_001351739
Location:5UTRS;INTRON

Gene Symbol:ITPA
Accession:NM_181493
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASLVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKP
EGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSH
RFRALLELQEYFGSLAA*

Gene Symbol:ITPA
Accession:NM_001324240
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNAL
GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSF*

Gene Symbol:ITPA
Accession:NM_001424409
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHHHAQLILYFLVEMGFLHVGQAGFKLLTSGDPLASASQSAGITGVSHRAFPHFDEHQNGLRSLVVQILGDKFPCTLVAQ
KIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTF
ALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA*

Gene Symbol:ITPA
Accession:XM_047440139
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHHHAQLILYFLVEMGFLHVGQAGFKLLTSGDPLASASQSAGITGVSHRAFPHFDEHQNGLRSLVVQILGDKFPCTLVAQ
KIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTF
ALSTGDPSQPVRLFRGRTSERCHSSRHLACPRSSGAGSWHPEAARTLAGTPAFSLMDMSRRTQRCLRRRRTLSPIASGPC
WSCRSTLAVWQLDFCSWRRPLRPGIWGGLAQNLPHRAGTP*

Gene Symbol:ITPA
Accession:NM_001424408
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNAL
GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSERCHSSRHLACPRSSGAGSWHPE
AARTLAGTPAFSLMDMSRRTQRCLRRRRTLSPIASGPCWSCRSTLAVWQLDFCSWRRPLRPGIWGGLAQNLPHRAGTP*

Gene Symbol:ITPA
Accession:XM_011529234
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNAL
GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGNSWLTAPEA*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNAL
GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSERCHSSRHLACPRSSGAGSWHPE
AARTLAGTPAFSLMDMSRRTQRCLRRRRTLSPIASGPCWSCRSTLAVWQLDFCSWRRPLRPGIWGGLAQNLPHRAGTP*

Gene Symbol:ITPA
Accession:NM_033453
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNAL
GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGY
EQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHHHAQLILYFLVEMGFLHVGQAGFKLLTSGDPLASASQSAGITGVSHRAFPHFDEHQNGLRSLVVQILGDKFPCTLVAQ
KIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTF
ALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA*

Gene Symbol:ITPA
Accession:NR_052000
Location:EXON;NON-CODING

Gene Symbol:ITPA
Accession:NR_052002
Location:EXON;NON-CODING

Gene Symbol:ITPA
Accession:NM_001267623
Location:INTRON

Gene Symbol:ITPA
Accession:XM_006723565
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001456499 CLINVAR
dbSNP (RS) rs761555605 CLINVAR
MedGen C0342800 CLINVAR
NCBI Gene ITPA CLINVAR
OMIM 147520 CLINVAR
  613850 CLINVAR