RGD:127312341 Rat Genome Database

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Variant: RGD:127312341 -  Homo sapiens

RGD ID: 127312341
RS ID: rs200884317
ClinVar ID: CV1159041
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  SLC19A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,925,034
GRCh38 21 45,505,120
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379500.1:c.2869-14G>A
NM_030582.4:c.3409-14G>A
NM_130444.3:c.4114-14G>A
NG_011903.1:g.104929G>A
More... 		12/05/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC19A1
Accession:XM_047440962
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529698
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440960
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_194255
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529700
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_001379500
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440963
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440961
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529703
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352512
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440964
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352511
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_030582
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529706
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440959
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529702
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440965
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001205206
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440955
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001205207
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_130444
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352510
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440958
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440957
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440956
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440954
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_017028443
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529696
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001518914 CLINVAR
dbSNP (RS) rs200884317 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL18A1 CLINVAR
  SLC19A1 CLINVAR
OMIM 120328 CLINVAR
  600424 CLINVAR