RGD:28895736 Rat Genome Database

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Variant: RGD:28895736 -  Homo sapiens

RGD ID: 28895736
RS ID: rs200592320
ClinVar ID: CV885028
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PREPL  SLC3A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 44,547,546
GRCh38 2 44,320,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171606.2:c.*949T>C
NC_000002.12:g.44320407A>G
NC_000002.11:g.44547546A>G
NM_000341.3:c.1826A>G
More... 		03/06/2022 3 prime utr variant conflicting interpretations of pathogenicity|uncertain significance Cystinuria, non-type I; CYSTINURIA, TYPE I; CYSTINURIA, TYPE II; CYSTINURIA, TYPE III
Disease Annotations     Click to see Annotation Detail View
cystinuria  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cystinuria  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PREPL
Accession:NM_001042386
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446444
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446442
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001042385
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001374276
Location:3UTRS;EXON

Gene Symbol:SLC3A1
Accession:XM_011533047
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_017005385
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446443
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446445
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_006036
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001374275
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171613
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171617
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171603
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001171606
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446446
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:NM_001374277
Location:3UTRS;EXON

Gene Symbol:PREPL
Accession:XM_047446441
Location:3UTRS;EXON

Gene Symbol:SLC3A1
Accession:NM_000341
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 609
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHA
NELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHSMISGLPAKMRIRLSTNSADKGSKVDTSGIFL
DKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001140991 CLINVAR
dbSNP (RS) rs200592320 CLINVAR
MedGen C0010691 CLINVAR
NCBI Gene PREPL CLINVAR
  SLC3A1 CLINVAR
OMIM 104614 CLINVAR
  220100 CLINVAR
  609557 CLINVAR
SNOMED CT 85020001 CLINVAR