RGD:15155186 Rat Genome Database

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Variant: RGD:15155186 -  Homo sapiens

RGD ID: 15155186
RS ID: rs200800682
ClinVar ID: CV747647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC3A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 44,539,781
GRCh38 2 44,312,642
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008233.1:g.42185C>T
NC_000002.12:g.44312642C>T
NC_000002.11:g.44539781C>T
NM_000341.3:c.1389C>T
More... 		10/12/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC3A1
Accession:XM_011533047
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 463
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDSCSVTHARVQWRDLGTLQPLL
PGFK*

Gene Symbol:SLC3A1
Accession:NM_000341
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 463
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQA
RYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTV
WITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLL
EAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHA
NELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFL
DKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000924415 CLINVAR
  RCV003903040 CLINVAR
dbSNP (RS) rs200800682 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC3A1 CLINVAR
OMIM 104614 CLINVAR