RGD:405047364 Rat Genome Database

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Variant: RGD:405047364 -  Homo sapiens

RGD ID: 405047364
ClinVar ID: CV3071793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC19A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 169,446,591
GRCh38 1 169,477,353
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001319667.1:c.205-7167T>C
NM_006996.3:c.609T>C
NG_008255.1:g.13618T>C
NC_000001.11:g.169477353A>G
More... 		09/20/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC19A2
Accession:NM_006996
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGPDKNLTEREVFNEIYPVWTYS
YLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSY
CRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTD
TPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSVWWALSTCGYFQVVNYTQGLW
EKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIY
MLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMK
KCRKLEDPQSSSQVTTS*

Gene Symbol:SLC19A2
Accession:NM_001319667
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003740351 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC19A2 CLINVAR
OMIM 603941 CLINVAR