RGD:156050643 Rat Genome Database

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Variant: RGD:156050643 -  Homo sapiens

RGD ID: 156050643
ClinVar ID: CV2323291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC19A2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 169,446,425
GRCh38 1 169,477,187
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.205-7001C>G
NM_006996.3:c.775C>G
NG_008255.1:g.13784C>G
NC_000001.11:g.169477187G>C
More... 		11/17/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC19A2
Accession:NM_006996
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 259
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGPDKNLTEREVFNEIYPVWTYS
YLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSY
CRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTD
TPASNHLPGWEDIESKIPVNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSVWWALSTCGYFQVVNYTQGLW
EKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIY
MLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMK
KCRKLEDPQSSSQVTTS*

Gene Symbol:SLC19A2
Accession:NM_001319667
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002924444 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SLC19A2 CLINVAR
OMIM 603941 CLINVAR