rs764278369 Rat Genome Database

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Variant: rs764278369 -  Homo sapiens

RGD ID: 28898664
RS ID: rs764278369
ClinVar ID: CV884082
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC19A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 228,560,795
GRCh38 2 227,696,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001371411.1:c.982G>A
NM_001371412.1:c.982G>A
NM_025243.4:c.982G>A
NG_016359.1:g.26951G>A
More... 		02/09/2018 missense variant uncertain significance Biotin-thiamine-responsive basal ganglia disease; THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- AND THIAMINE-RESPONSIVE TYPE); Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2); Thiamine metabolism dysfunction syndrome type 2; Thiamine Transporter-2 Deficiency; thiamine-responsive encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC19A3
Accession:NM_025243
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYK
PVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQL
LVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVE
AIATFGGTVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNV
ERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:NM_001371413
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPLGSASRATVDQLTDLPSKEQLSCVVFALWPPAFSSNLSDPGVKITNEIFPVWTYSYLVLLLPVFVLTDYVRYKPVII
LQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQLLVSL
ANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILSTSGKL
NKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVEAIAT
FGGTVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYA
LVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHP
EEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:NM_001371412
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYK
PVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQL
LVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVE
AIATFGGTVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNV
ERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:NM_001371411
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYK
PVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQL
LVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVE
AIATFGGTVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNV
ERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:NM_001371414
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPLGSASRATVDQLTDLPSKEQLSCVVFALWPPAFSSNLSDPGVKITNEIFPVWTYSYLVLLLPVFVLTDYVRYKPVII
LQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQLLVSL
ANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILSTSGKL
NKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVEAIAT
FGGTVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYA
LVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHP
EEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:XM_047445927
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGKGKHLAFTAMDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLL
PVFVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTL
AAYTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGC
EEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAP
SQDSSIYNGAVEAIATFGGTVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLIT
IAVFQIAVNLNVERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQK
DVQSPAPSENPDVSHPEEESNIIMSTKL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001142077 CLINVAR
dbSNP (RS) rs764278369 CLINVAR
MedGen C1843807 CLINVAR
NCBI Gene SLC19A3 CLINVAR
OMIM 606152 CLINVAR
  607483 CLINVAR