RGD:11350809 Rat Genome Database

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Variant: RGD:11350809 -  Homo sapiens

RGD ID: 11350809
RS ID: rs369804798
ClinVar ID: CV236901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A19  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 1,216,726
GRCh38 5 1,216,611
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001003841.2:c.941C>T
NG_008282.1:g.20017C>T
NC_000005.10:g.1216611C>T
NC_000005.9:g.1216726C>T
More...
05/27/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC6A19
Accession:NM_001003841
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVL
EGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQT
GYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIR
GLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTLVYVAIV
VYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAF
IVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQY
WLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTY
SIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000224449 CLINVAR
dbSNP (RS) rs369804798 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC6A19 CLINVAR
OMIM 608893 CLINVAR