RGD:127297606 Rat Genome Database

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Variant: RGD:127297606 -  Homo sapiens

RGD ID: 127297606
RS ID: rs375950011
ClinVar ID: CV1154190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127273522  SLC1A4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 65,217,011
GRCh38 2 64,989,877
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_053002.1:g.6433C>G
NC_000002.12:g.64989877C>G
NC_000002.11:g.65217011C>G
NP_003029.2:p.Pro78=
More... 		10/22/2020 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC1A4
Accession:NM_001348407
Location:5UTRS;INTRON

Gene Symbol:SLC1A4
Accession:NM_001348406
Location:5UTRS;INTRON

Gene Symbol:SLC1A4
Accession:NM_001193493
Location:5UTRS;INTRON

Gene Symbol:SLC1A4
Accession:NM_003038
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKSNETNGYLDSAQAGPAAGPGAPGTAAGRARRCAGFLRRQALVLLTVSGVLAGAGLGAALRGLSLSRTQVTYLAFPGE
MLLRMLRMIILPLVVCSLVSGAASLDASCLGRLGGIAVAYFGLTTLSASALAVALAFIIKPGSGAQTLQSSDLGLEDSGP
PPVPKETVDSFLDLARNLFPSNLVVAAFRTYATDYKVVTQNSSSGNVTHEKIPIGTEIEGMNILGLVLFALVLGVALKKL
GSEGEDLIRFFNSLNEATMVLVSWIMWYVPVGIMFLVGSKIVEMKDIIVLVTSLGKYIFASILGHVIHGGIVLPLIYFVF
TRKNPFRFLLGLLAPFATAFATCSSSATLPSMMKCIEENNGVDKRISRFILPIGATVNMDGAAIFQCVAAVFIAQLNNVE
LNAGQIFTILVTATASSVGAAGVPAGGVLTIAIILEAIGLPTHDLPLILAVDWIVDRTTTVVNVEGDALGAGILHHLNQK
ATKKGEQELAEVKVEAIPNCKSEEETSPLVTHQNPAGPVASAPELESKESVL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001512936 CLINVAR
  RCV003966079 CLINVAR
dbSNP (RS) rs375950011 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC1A4 CLINVAR
OMIM 600229 CLINVAR