RGD:40815282 Rat Genome Database

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Variant: RGD:40815282 -  Homo sapiens

RGD ID: 40815282
RS ID: rs750996109
ClinVar ID: CV970741
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC3A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,502,966
GRCh38 2 44,275,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.44275827C>A
NC_000002.11:g.44502966C>A
NM_000341.3:c.292C>A
NP_000332.2:p.Leu98Met
More... 		01/01/2019 missense variant 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:SLC3A1
Accession:NM_000341
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVMVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHA
NELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFL
DKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC*

Gene Symbol:SLC3A1
Accession:XM_011533047
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVMVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDSCSVTHARVQWRDLGTLQPLL
PGFK*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001262587 CLINVAR
dbSNP (RS) rs750996109 CLINVAR
MedGen C0010691 CLINVAR
NCBI Gene SLC3A1 CLINVAR
OMIM 104614 CLINVAR
  220100 CLINVAR
SNOMED CT 85020001 CLINVAR