RGD:126751835 Rat Genome Database

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Variant: RGD:126751835 -  Homo sapiens

RGD ID: 126751835
RS ID: rs142645681
ClinVar ID: CV993970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC29A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 73,115,864
GRCh38 10 71,356,107
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1318t1:c.637G>A
NM_001363518.2:c.403G>A
NM_001174098.2:c.637G>A
NM_018344.6:c.637G>A
More... 		06/19/2020 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; 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:XM_047425425
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSTVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARQGNGESGRNPQTPEWYKLTFRKNTDGCLP*

Gene Symbol:SLC29A3
Accession:XM_047425424
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSTVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARCLEGSQKPIPWKTAWHGNQREKGTRSDEELSLKSPAERTELTPKMWQPLEP*

Gene Symbol:SLC29A3
Accession:NM_001363518
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTS
SWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSTVASLVDLAASSDVRNSALAFFLTAT
VFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFI
TSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNY
QPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:NM_001174098
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSTVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYAR*

Gene Symbol:SLC29A3
Accession:NM_018344
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSTVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITS
LIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQP
RVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001297604 CLINVAR
dbSNP (RS) rs142645681 CLINVAR
MedGen C1864445 CLINVAR
NCBI Gene SLC29A3 CLINVAR
OMIM 602782 CLINVAR
  612373 CLINVAR
  612391 CLINVAR