RGD:15145711 Rat Genome Database

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Variant: RGD:15145711 -  Homo sapiens

RGD ID: 15145711
RS ID: rs72555744
ClinVar ID: CV710977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NT5C3A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 33,060,916
GRCh38 7 33,021,304
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.33060916A>G
NM_001356996.3:c.270T>C
NM_016489.14:c.306T>C
NM_001374339.1:c.207T>C
More... 		06/10/2021 synonymous variant benign HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY; HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY; none provided; P5N DEFICIENCY; PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; UMPH1 DEFICIENCY; Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NT5C3A
Accession:XM_047420439
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKY
YAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLE
EVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANV
EHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001374335
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIEMIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTD
ECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIP
VFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDS
QGDLRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001374336
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKY
YAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLE
EVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANV
EHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001356996
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKY
YAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLE
EVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANV
EHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001002010
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIEMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQI
ITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQAL
PKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGE
LIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESL
EVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001166118
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKY
YAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLE
EVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANV
EHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001002009
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNQESAVHVKMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDE
CRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPV
FIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQ
GDLRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001374338
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIEMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQI
ITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQAL
PKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETVDELLEKYM
DSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_016489
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNQESAVHVKMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDE
CRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPV
FIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQ
GDLRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001374339
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNQESAVHVKMIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEW
YTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMD
FDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANVEHILKIGYLNDRVDELLEKYM
DSYDIVLVQDESLEVANSILQKIL*

Gene Symbol:NT5C3A
Accession:NM_001374337
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKY
YAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLE
EVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANV
EHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967044 CLINVAR
  RCV001804143 CLINVAR
dbSNP (RS) rs72555744 CLINVAR
MedGen C1849507 CLINVAR
  C3661900 CLINVAR
NCBI Gene NT5C3A CLINVAR
OMIM 266120 CLINVAR
  606224 CLINVAR