RGD:13488515 Rat Genome Database

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Variant: RGD:13488515 -  Homo sapiens

RGD ID: 13488515
RS ID: rs200001297
ClinVar ID: CV460135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC29A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 73,122,084
GRCh38 10 71,362,327
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_060814.4:p.Val383Met
NC_000010.10:g.73122084G>A
NC_000010.11:g.71362327G>A
NG_017066.2:g.48069G>A
More... 		08/11/2017 3 prime utr variant|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:NM_001174098
Location:3UTRS;EXON

Gene Symbol:SLC29A3
Accession:NM_001363518
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTS
SWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTAT
VFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFI
TSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFMLLRTCLIPLFVLCNY
QPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:NM_018344
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITS
LIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFMLLRTCLIPLFVLCNYQP
RVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

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

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

Gene Symbol:SLC29A3
Accession:XM_047425424
Location:INTRON

Gene Symbol:SLC29A3
Accession:XM_047425425
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000532408 CLINVAR
  RCV002526157 CLINVAR
dbSNP (RS) rs200001297 CLINVAR
MedGen C0950123 CLINVAR
  C1864445 CLINVAR
NCBI Gene SLC29A3 CLINVAR
OMIM 602782 CLINVAR
  612373 CLINVAR
  612391 CLINVAR