RGD:15149645 Rat Genome Database

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Variant: RGD:15149645 -  Homo sapiens

RGD ID: 15149645
RS ID: rs138438258
ClinVar ID: CV749161
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A19  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 1,217,045
GRCh38 5 1,216,930
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.1158C>T
NP_001003841.1:p.Asn386=
NM_001003841.3:c.1158C>T
NG_008282.1:g.20336C>T
More... 		02/01/2023 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC6A19
Accession:NM_001003841
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVL
EGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQT
GYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIR
GLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIV
VYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAF
IVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQY
WLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTY
SIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923325 CLINVAR
  RCV003933120 CLINVAR
dbSNP (RS) rs138438258 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC6A19 CLINVAR
OMIM 608893 CLINVAR