RGD:401906646 Rat Genome Database

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Variant: RGD:401906646 -  Homo sapiens

RGD ID: 401906646
ClinVar ID: CV2818149
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENOSF1  TYMS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 670,825
GRCh38 18 670,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_783t1:c.690C>T
NM_001318760.2:c.*3480G>A
NM_001354065.2:c.*3480G>A
NM_001354066.2:c.*3480G>A
More... 		02/01/2023 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ENOSF1
Accession:XM_047437618
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_024451204
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_047437617
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:NM_001354068
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_024451208
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_024451203
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:NM_001354065
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_024451201
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_047437612
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_047437621
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_047437613
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_024451202
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:NM_001354066
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:NM_001354067
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_047437614
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:NM_017512
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_024451209
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:NM_202758
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:NM_001318760
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_024451210
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_047437620
Location:3UTRS;EXON

Gene Symbol:ENOSF1
Accession:XM_047437611
Location:5UTRS;INTRON

Gene Symbol:TYMS
Accession:NM_001354867
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVF
WKGVLEELLWFIKGSTNAKELSSKGVKIWDANGSRDFLDSLGFSTREEGDLGPVYGFQWRHFGAEYRDMESDLPLMALPP
CHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPR
PFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV*

Gene Symbol:TYMS
Accession:NM_001354868
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDYSGQGVDQLQR
VIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGL
KPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV*

Gene Symbol:TYMS
Accession:XM_024451242
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLILCVLYHNEKSCCVGQVTCADYSGQGVDQLQRVIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSE
LSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEK
IDDFKAEDFQIEGYNPHPTIKMEMAV*

Gene Symbol:TYMS
Accession:NM_001071
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVF
WKGVLEELLWFIKGSTNAKELSSKGVKIWDANGSRDFLDSLGFSTREEGDLGPVYGFQWRHFGAEYRDMESDYSGQGVDQ
LQRVIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHI
TGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV*

Gene Symbol:ENOSF1
Accession:XR_007066190
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066188
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066192
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066183
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:NR_148707
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066189
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066186
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066184
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066191
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:NR_148712
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_430041
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066181
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066187
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:NR_148706
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:NR_148708
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066185
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XR_007066182
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:NR_148710
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:NR_148709
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:NR_148711
Location:EXON;NON-CODING

Gene Symbol:ENOSF1
Accession:XM_047437615
Location:INTRON

Gene Symbol:ENOSF1
Accession:XM_047437622
Location:INTRON

Gene Symbol:ENOSF1
Accession:XM_047437616
Location:INTRON

Gene Symbol:ENOSF1
Accession:XM_047437619
Location:INTRON

Gene Symbol:ENOSF1
Accession:XR_007066193
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003421570 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ENOSF1 CLINVAR
  TYMS CLINVAR
OMIM 188350 CLINVAR
  607427 CLINVAR