RGD:13520853 Rat Genome Database

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Variant: RGD:13520853 -  Homo sapiens

RGD ID: 13520853
RS ID: rs1554033750
ClinVar ID: CV495232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A19  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 1,201,945
GRCh38 5 1,201,830
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008282.1:g.5236C>G
NC_000005.10:g.1201830C>G
NC_000005.9:g.1201945C>G
NP_001003841.1:p.Tyr60Ter
More... 		02/13/2018 nonsense likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC6A19
Accession:NM_001003841
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFP*LCQSHGGGAFMIPFLILLVL
EGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQT
GYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIR
GLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIV
VYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAF
IVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQY
WLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTY
SIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000598978 CLINVAR
dbSNP (RS) rs1554033750 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC6A19 CLINVAR
OMIM 608893 CLINVAR