RGD:10052562 Rat Genome Database

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Variant: RGD:10052562 -  Homo sapiens

RGD ID: 10052562
RS ID: rs794727732
ClinVar ID: CV194995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC29A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 73,115,907
GRCh38 10 71,356,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.71356150G>A
NC_000010.10:g.73115907G>A
NP_060814.4:p.Arg227Lys
NP_001167569.1:p.Arg227Lys
More... 		03/20/2015 missense variant|non-coding transcript variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC29A3
Accession:NM_001363518
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTS
SWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVKNSALAFFLTAT
VFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFI
TSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNY
QPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:XM_047425424
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVKNSALAFFLTATVF
LVLCMGLYLLLSRLEYARCLEGSQKPIPWKTAWHGNQREKGTRSDEELSLKSPAERTELTPKMWQPLEP*

Gene Symbol:SLC29A3
Accession:NM_001174098
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVKNSALAFFLTATVF
LVLCMGLYLLLSRLEYAR*

Gene Symbol:SLC29A3
Accession:NM_018344
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVKNSALAFFLTATVF
LVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITS
LIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQP
RVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:XM_047425425
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVKNSALAFFLTATVF
LVLCMGLYLLLSRLEYARQGNGESGRNPQTPEWYKLTFRKNTDGCLP*

Gene Symbol:SLC29A3
Accession:NR_033414
Location:EXON;NON-CODING

Gene Symbol:SLC29A3
Accession:NR_033413
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000178968 CLINVAR
dbSNP (RS) rs794727732 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC29A3 CLINVAR
OMIM 612373 CLINVAR