rs372637185 Rat Genome Database

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Variant: rs372637185 -  Homo sapiens

RGD ID: 13835127
RS ID: rs372637185
ClinVar ID: CV586383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC19A3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 228,566,929
GRCh38 2 227,702,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016359.1:g.20817A>G
NC_000002.12:g.227702213T>C
NC_000002.11:g.228566929T>C
NP_079519.1:p.Ile36Val
More... 		01/21/2024 missense variant likely benign|uncertain significance Biotin-thiamine-responsive basal ganglia disease; none provided; 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_001371413
Location:5UTRS;EXON

Gene Symbol:SLC19A3
Accession:NM_001371414
Location:5UTRS;EXON

Gene Symbol:SLC19A3
Accession:NM_025243
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLVPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYK
PVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQL
LVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVE
AIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNV
ERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:NM_001371411
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLVPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYK
PVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQL
LVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVE
AIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNV
ERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:XM_047445927
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGKGKHLAFTAMDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLVPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLL
PVFVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTL
AAYTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGC
EEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAP
SQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLIT
IAVFQIAVNLNVERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQK
DVQSPAPSENPDVSHPEEESNIIMSTKL*

Gene Symbol:SLC19A3
Accession:NM_001371412
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLVPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYK
PVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQL
LVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVE
AIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNV
ERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000730839 CLINVAR
  RCV001046655 CLINVAR
dbSNP (RS) rs372637185 CLINVAR
MedGen C1843807 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC19A3 CLINVAR
OMIM 606152 CLINVAR
  607483 CLINVAR