RGD:15165819 Rat Genome Database

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Variant: RGD:15165819 -  Homo sapiens

RGD ID: 15165819
RS ID: rs139908611
ClinVar ID: CV734812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,201,879
GRCh38 5 1,201,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001003841.3:c.114G>A
NG_008282.1:g.5170G>A
NC_000005.10:g.1201764G>A
NC_000005.9:g.1201879G>A
More... 		10/17/2017 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC6A19
Accession:NM_001003841
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVL
EGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQT
GYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIR
GLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIV
VYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAF
IVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQY
WLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTY
SIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000904307 CLINVAR
dbSNP (RS) rs139908611 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC6A19 CLINVAR
OMIM 608893 CLINVAR