RGD:21067032 Rat Genome Database

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Variant: RGD:21067032 -  Homo sapiens

RGD ID: 21067032
RS ID: rs768467260
ClinVar ID: CV792542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC3A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,528,243
GRCh38 2 44,301,104
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.44301104C>A
NC_000002.11:g.44528243C>A
NM_000341.4:c.1113C>A
NP_000332.2:p.Tyr371Ter
More... 		nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View
cystinuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SLC3A1
Accession:XM_011533047
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQ*STEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDSCSVTHARVQWRDLGTLQPLL
PGFK*

Gene Symbol:SLC3A1
Accession:NM_000341
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQ*STEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHA
NELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFL
DKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000991110 CLINVAR
dbSNP (RS) rs768467260 CLINVAR
MedGen C3671878 CLINVAR
NCBI Gene SLC3A1 CLINVAR
OMIM 104614 CLINVAR