RGD:401932392 Rat Genome Database

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Variant: RGD:401932392 -  Homo sapiens

RGD ID: 401932392
ClinVar ID: CV2799050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC51A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 195,955,043
GRCh38 3 196,228,172
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152672.6:c.420G>T
NC_000003.12:g.196228172G>T
NC_000003.11:g.195955043G>T
NM_152672.5:c.420G>T
More... 		03/15/2023 synonymous variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:SLC51A
Accession:NM_152672
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGRTQIKLDPRYTADLLEVLKTNYGIPSACFSQPPTAAQLLRALGPVELALTSILTLLALGSIAIFLEDAVYLYKNTL
CPIKRRTLLWKSSAPTVVSVLCCFGLWIPRSLVLVEMTITSFYAVCFYLLMLVMVEGFGGKEAVLRTLRDTPMMVHTGPC
CCCCPCCPRLLLTRKKLQLLMLGPFQYAFLKITLTLVGLFLVPDGIYDPADISEGSTALWINTFLGVSTLLALWTLGIIS
RQARLHLGEQNMGAKFALFQVLLILTALQPSIFSVLANGGQIACSPPYSSKTRSQVMNCHLLILETFLMTVLTRMYYRRK
DHKVGYETFSSPDLDLNLKA*

Gene Symbol:SLC51A
Accession:XM_047447662
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTITSFYAVCFYLLMLVMVEGFGGKEAVLRTLRDTPMMVHTGPCCCCCPCCPRLLLTRKKLQLLMLGPFQYAFLKITLTL
VGLFLVPDGIYDPADISEGSTALWINTFLGVSTLLALWTLGIISRQARLHLGEQNMGAKFALFQVLLILTALQPSIFSVL
ANGGQIACSPPYSSKTRSQVMNCHLLILETFLMTVLTRMYYRRKDHKVGYETFSSPDLDLNLKA*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003408595 CLINVAR
NCBI Gene SLC51A CLINVAR
OMIM 612084 CLINVAR