RGD:14733220 Rat Genome Database

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Variant: RGD:14733220 -  Homo sapiens

RGD ID: 14733220
RS ID: rs138389471
ClinVar ID: CV639125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC29A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 73,082,780
GRCh38 10 71,323,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1318t1:c.269C>T
NM_018344.6:c.269C>T
LRG_1318:g.8765C>T
NG_017066.2:g.8765C>T
More... 		03/17/2021 missense variant uncertain significance Asrar Facharzt Haque syndrome; Faisalabad histiocytosis; HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS; Histiocytosis with joint contractures and sensorineural deafness; Histiocytosis-lymphadenopathy plus syndrome; HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism; none provided; Pigmented hypertrichosis and insulin-dependent diabetes mellitus; PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS; ROSAI-DORFMAN DISEASE, FAMILIAL; SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC29A3
Accession:NM_001363518
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKLRNSSSPAIGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTS
SWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTAT
VFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFI
TSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNY
QPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:NM_018344
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPAIGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITS
LIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQP
RVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:NM_001174098
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPAIGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYAR*

Gene Symbol:SLC29A3
Accession:XM_047425424
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPAIGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARCLEGSQKPIPWKTAWHGNQREKGTRSDEELSLKSPAERTELTPKMWQPLEP*

Gene Symbol:SLC29A3
Accession:XM_047425425
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPAIGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARQGNGESGRNPQTPEWYKLTFRKNTDGCLP*

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000818619 CLINVAR
  RCV001093314 CLINVAR
dbSNP (RS) rs138389471 CLINVAR
MedGen C1864445 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC29A3 CLINVAR
OMIM 602782 CLINVAR
  612373 CLINVAR
  612391 CLINVAR