RGD:15164183 Rat Genome Database

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Variant: RGD:15164183 -  Homo sapiens

RGD ID: 15164183
RS ID: rs766491340
ClinVar ID: CV734816
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,212,506
GRCh38 5 1,212,391
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.570G>A
NG_008282.1:g.15797G>A
NC_000005.10:g.1212391G>A
NC_000005.9:g.1212506G>A
More... 		04/30/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC6A19
Accession:NM_001003841
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 190
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 RCV000903945 CLINVAR
dbSNP (RS) rs766491340 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC6A19 CLINVAR
OMIM 608893 CLINVAR