RGD:155939856 Rat Genome Database

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Variant: RGD:155939856 -  Homo sapiens

RGD ID: 155939856
ClinVar ID: CV2221841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A15  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 85,260,901
GRCh38 12 84,867,122
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001146335.3:c.1246A>T
NM_182767.6:c.1567A>T
NM_018057.1:c.714A>T
NC_000012.12:g.84867122T>A
More... 		07/20/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SLC6A15
Accession:NM_182767
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 523
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKNSKVVKRELDDDVTESVKDLLSNEDAADDAFKTSELIVDGQEEKDTDVEEGSEVEDERPAWNSKLQYILAQVGFSVG
LGNVWRFPYLCQKNGGGAYLLPYLILLMVIGIPLFFLELSVGQRIRRGSIGVWNYISPKLGGIGFASCVVCYFVALYYNV
IIGWSLFYFSQSFQQPLPWDQCPLVKNASHTFVEPECEQSSATTYYWYREALNISSSISESGGLNWKMTICLLAAWVMVC
LAMIKGIQSSGKIIYFSSLFPYVVLICFLIRAFLLNGSIDGIRHMFTPKLEIMLEPKVWREAATQVFFALGLGFGGVIAF
SSYNKRDNNCHFDAVLVSFINFFTSVLATLVVFAVLGFKANVINEKCITQNSETIMKFLKMGNISQDIIPHHINLSTVTA
EDYHLVYDIIQKVKEEEFPALHLNSCKIEEELNKAVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLVNLGLGSMFGTIE
GIVTPIVDTFKVRKEILTVICCLLAFCIGLIFVQRSGNYFVTLFDDYSATLPLLIVVILENIAVCFVYGIDKFMEDLKDM
LGFAPSRYYYYMWKYISPLMLLSLLIASVVNMGLSPPGYNAWIEDKASEEFLSYPTWGLVVCVSLVVFAILPVPVVFIVR
RFNLIDDSSGNLASVTYKRGRVLKEPVNLEGDDTSLIHGKIPSEMPSPNFGKNIYRKQSGSPTLDTAPNGRYGIGYLMAD
IMPDMPESDL*

Gene Symbol:SLC6A15
Accession:NM_001146335
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVIGIPLFFLELSVGQRIRRGSIGVWNYISPKLGGIGFASCVVCYFVALYYNVIIGWSLFYFSQSFQQPLPWDQCPLVKN
ASHTFVEPECEQSSATTYYWYREALNISSSISESGGLNWKMTICLLAAWVMVCLAMIKGIQSSGKIIYFSSLFPYVVLIC
FLIRAFLLNGSIDGIRHMFTPKLEIMLEPKVWREAATQVFFALGLGFGGVIAFSSYNKRDNNCHFDAVLVSFINFFTSVL
ATLVVFAVLGFKANVINEKCITQNSETIMKFLKMGNISQDIIPHHINLSTVTAEDYHLVYDIIQKVKEEEFPALHLNSCK
IEEELNKAVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLVNLGLGSMFGTIEGIVTPIVDTFKVRKEILTVICCLLAFC
IGLIFVQRSGNYFVTLFDDYSATLPLLIVVILENIAVCFVYGIDKFMEDLKDMLGFAPSRYYYYMWKYISPLMLLSLLIA
SVVNMGLSPPGYNAWIEDKASEEFLSYPTWGLVVCVSLVVFAILPVPVVFIVRRFNLIDDSSGNLASVTYKRGRVLKEPV
NLEGDDTSLIHGKIPSEMPSPNFGKNIYRKQSGSPTLDTAPNGRYGIGYLMADIMPDMPESDL*

Gene Symbol:SLC6A15
Accession:NM_018057
Location:INTRON

Gene Symbol:SLC6A15
Accession:XM_011538525
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004102866 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SLC6A15 CLINVAR
OMIM 607971 CLINVAR