RGD:11587032 Rat Genome Database

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Variant: RGD:11587032 -  Homo sapiens

RGD ID: 11587032
RS ID: rs140452488
ClinVar ID: CV289508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC3A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 44,528,142
GRCh38 2 44,301,003
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008233.1:g.30546G>C
NC_000002.12:g.44301003G>C
NC_000002.11:g.44528142G>C
NP_000332.2:p.Asp338His
More... 		01/21/2022 missense variant uncertain significance all ages 1-5 / 10 000 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:XM_011533047
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPHTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDSCSVTHARVQWRDLGTLQPLL
PGFK*

Gene Symbol:SLC3A1
Accession:NM_000341
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPHTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHA
NELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFL
DKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000292340 CLINVAR
dbSNP (RS) rs140452488 CLINVAR
MedGen C0010691 CLINVAR
NCBI Gene SLC3A1 CLINVAR
OMIM 104614 CLINVAR
  220100 CLINVAR
SNOMED CT 85020001 CLINVAR