rs376289512 Rat Genome Database

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Variant: rs376289512 -  Homo sapiens

RGD ID: 8621574
RS ID: rs376289512
ClinVar ID: CV75548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  LOC127399732  SLC26A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 983,105
GRCh38 4 989,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033042.1:g.9120G>A
NC_000004.12:g.989317C>T
NC_000004.11:g.983105C>T
NP_071325.2:p.Arg541His
More... 		07/19/2021 intron variant|missense variant uncertain significance Calcium oxalate nephrolithiasis; NEPHROLITHIASIS, CALCIUM OXALATE, 1; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC26A1
Accession:NM_022042
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 541
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDESPEPLQQGRGPVPVRRQRPAPRGLREMLKARLWCSCSCSVLCVRALVQDLLPATRWLRQYRPREYLAGDVMSGLVIG
IILVPQAIAYSLLAGLQPIYSLYTSFFANLIYFLMGTSRHVSVGIFSLLCLMVGQVVDRELQLAGFDPSQDGLQPGANSS
TLNGSAAMLDCGRDCYAIRVATALTLMTGLYQVLMGVLRLGFVSAYLSQPLLDGFAMGASVTILTSQLKHLLGVRIPRHQ
GPGMVVLTWLSLLRGAGQANVCDVVTSTVCLAVLLAAKELSDRYRHRLRVPLPTELLVIVVATLVSHFGQLHKRFGSSVA
GDIPTGFMPPQVPEPRLMQRVALDAVALALVAAAFSISLAEMFARSHGYSVRANQELLAVGCCNVLPAFLHCFATSAALA
KSLVKTATGCRTQLSSVVSATVVLLVLLALAPLFHDLQRSVLACVIVVSLRGALRKVWDLPRLWRMSPADALVWAGTAAT
CMLVSTEAGLLAGVILSLLSLAGRTQRPRTALLARIGDTAFYEDATEFEGLVPEPGVRVFLFGGPLYYANKDFFLQSLYS
LTGLDAGCMAARRKEGGSETGVGEGGPAQGEDLGPVSTRAALVPAAAGFHTVVIDCAPLLFLDAAGVSTLQDLRRDYGAL
GISLLLACCSPPVRDILSRGGFLGEGPGDTAEEEQLFLSVHDAVQTARARHRELEATDAHL*

Gene Symbol:SLC26A1
Accession:NM_213613
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 541
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDESPEPLQQGRGPVPVRRQRPAPRGLREMLKARLWCSCSCSVLCVRALVQDLLPATRWLRQYRPREYLAGDVMSGLVIG
IILVPQAIAYSLLAGLQPIYSLYTSFFANLIYFLMGTSRHVSVGIFSLLCLMVGQVVDRELQLAGFDPSQDGLQPGANSS
TLNGSAAMLDCGRDCYAIRVATALTLMTGLYQVLMGVLRLGFVSAYLSQPLLDGFAMGASVTILTSQLKHLLGVRIPRHQ
GPGMVVLTWLSLLRGAGQANVCDVVTSTVCLAVLLAAKELSDRYRHRLRVPLPTELLVIVVATLVSHFGQLHKRFGSSVA
GDIPTGFMPPQVPEPRLMQRVALDAVALALVAAAFSISLAEMFARSHGYSVRANQELLAVGCCNVLPAFLHCFATSAALA
KSLVKTATGCRTQLSSVVSATVVLLVLLALAPLFHDLQRSVLACVIVVSLRGALRKVWDLPRLWRMSPADALVWAGTAAT
CMLVSTEAGLLAGVILSLLSLAGRTQRPRTALLARIGDTAFYEDATEFEGLVPEPGVRVFLFGGPLYYANKDFFLQSLYS
LTGLDAGCMAARRKEGGSETGVGEGGPAQGEDLGPVSTRAALVPAAAGFHTVVIDCAPLLFLDAAGVSTLQDLRRDYGAL
GISLLLACCSPPVRDILSRGGFLGEGPGDTAEEEQLFLSVHDAVQTARARHRELEATDAHL*

Gene Symbol:SLC26A1
Accession:XR_007096347
Location:EXON;NON-CODING

Gene Symbol:IDUA
Accession:XM_047415648
Location:INTRON

Gene Symbol:IDUA
Accession:XM_011513461
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415649
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415651
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415652
Location:INTRON

Gene Symbol:IDUA
Accession:NM_001363576
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415650
Location:INTRON

Gene Symbol:IDUA
Accession:NM_000203
Location:INTRON

Gene Symbol:SLC26A1
Accession:NM_134425
Location:INTRON

Gene Symbol:IDUA
Accession:NR_110313
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000054770 CLINVAR
  RCV002496731 CLINVAR
  RCV002513714 CLINVAR
  RCV004786327 CLINVAR
dbSNP (RS) rs376289512 CLINVAR
MedGen C0950123 CLINVAR
  C1833683 CLINVAR
  C3661900 CLINVAR
  C5779632 CLINVAR
NCBI Gene IDUA CLINVAR
  SLC26A1 CLINVAR
OMIM 167030 CLINVAR
  252800 CLINVAR
  610130 CLINVAR
SNOMED CT 444717006 CLINVAR