RGD:15121457 Rat Genome Database

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Variant: RGD:15121457 -  Homo sapiens

RGD ID: 15121457
RS ID: rs531864774
ClinVar ID: CV768317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAR1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 13,736,189
GRCh38 11 13,714,642
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.13714642G>T
NC_000011.9:g.13736189G>T
NM_032228.5:c.1089G>T
NP_115604.1:p.Leu363=
More...
08/10/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FAR1
Accession:XM_011520400
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRDENPDFREKII
AINSELTQPKLALSEEDKEVIIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQQMKNLEVFMHVSTAYAYCNR
KHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDRPNTYIYTKALAEYVVQQEGAKLNVAIVRPSIVGASWKEPF
PGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDVVVNMSLAAAWYSGVNRYMRPRNIMVYNCTTGSTNPFHWGE
VEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYHYWIAVSHKAPAFLYDIYLRMTGRSPRMMKTITRLHKAMVFLEYFTSN
SWVWNTENVNMLMNQLNPEDKKTFNIDVRQLHWAEYIENYCLGTKKYVLNEEMSGLPAARKHLNKLRNIRYGFNTILVIL
IWRIFIARSQMARNIWYFVVSLCYKFLSYFRASSTMRY*

Gene Symbol:FAR1
Accession:NM_032228
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRDENPDFREKII
AINSELTQPKLALSEEDKEVIIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQQMKNLEVFMHVSTAYAYCNR
KHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDRPNTYIYTKALAEYVVQQEGAKLNVAIVRPSIVGASWKEPF
PGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDVVVNMSLAAAWYSGVNRPRNIMVYNCTTGSTNPFHWGEVEY
HVISTFKRNPLEQAFRRPNVNLTSNHLLYHYWIAVSHKAPAFLYDIYLRMTGRSPRMMKTITRLHKAMVFLEYFTSNSWV
WNTENVNMLMNQLNPEDKKTFNIDVRQLHWAEYIENYCLGTKKYVLNEEMSGLPAARKHLNKLRNIRYGFNTILVILIWR
IFIARSQMARNIWYFVVSLCYKFLSYFRASSTMRY*

Gene Symbol:FAR1
Accession:XM_047427690
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000940526 CLINVAR
dbSNP (RS) rs531864774 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FAR1 CLINVAR
OMIM 616107 CLINVAR