RGD:156104742 Rat Genome Database

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Variant: RGD:156104742 -  Homo sapiens

RGD ID: 156104742
ClinVar ID: CV2400314
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A15  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 85,255,607
GRCh38 12 84,861,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018057.1:c.*394C>G
NM_001146335.3:c.1676C>G
NM_182767.6:c.1997C>G
NC_000012.12:g.84861828G>C
More... 		11/30/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SLC6A15
Accession:NM_182767
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 666
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKNSKVVKRELDDDVTESVKDLLSNEDAADDAFKTSELIVDGQEEKDTDVEEGSEVEDERPAWNSKLQYILAQVGFSVG
LGNVWRFPYLCQKNGGGAYLLPYLILLMVIGIPLFFLELSVGQRIRRGSIGVWNYISPKLGGIGFASCVVCYFVALYYNV
IIGWSLFYFSQSFQQPLPWDQCPLVKNASHTFVEPECEQSSATTYYWYREALNISSSISESGGLNWKMTICLLAAWVMVC
LAMIKGIQSSGKIIYFSSLFPYVVLICFLIRAFLLNGSIDGIRHMFTPKLEIMLEPKVWREAATQVFFALGLGFGGVIAF
SSYNKRDNNCHFDAVLVSFINFFTSVLATLVVFAVLGFKANVINEKCITQNSETIMKFLKMGNISQDIIPHHINLSTVTA
EDYHLVYDIIQKVKEEEFPALHLNSCKIEEELNKAVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLVNLGLGSMFGTIE
GIVTPIVDTFKVRKEILTVICCLLAFCIGLIFVQRSGNYFVTMFDDYSATLPLLIVVILENIAVCFVYGIDKFMEDLKDM
LGFAPSRYYYYMWKYISPLMLLSLLIASVVNMGLSPPGYNAWIEDKASEEFLSYPTWGLVVCVSLVVFAILPVPVVFIVR
RFNLIDDSSGNLASVTYKRGRVLKERVNLEGDDTSLIHGKIPSEMPSPNFGKNIYRKQSGSPTLDTAPNGRYGIGYLMAD
IMPDMPESDL*

Gene Symbol:SLC6A15
Accession:NM_001146335
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 559
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVIGIPLFFLELSVGQRIRRGSIGVWNYISPKLGGIGFASCVVCYFVALYYNVIIGWSLFYFSQSFQQPLPWDQCPLVKN
ASHTFVEPECEQSSATTYYWYREALNISSSISESGGLNWKMTICLLAAWVMVCLAMIKGIQSSGKIIYFSSLFPYVVLIC
FLIRAFLLNGSIDGIRHMFTPKLEIMLEPKVWREAATQVFFALGLGFGGVIAFSSYNKRDNNCHFDAVLVSFINFFTSVL
ATLVVFAVLGFKANVINEKCITQNSETIMKFLKMGNISQDIIPHHINLSTVTAEDYHLVYDIIQKVKEEEFPALHLNSCK
IEEELNKAVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLVNLGLGSMFGTIEGIVTPIVDTFKVRKEILTVICCLLAFC
IGLIFVQRSGNYFVTMFDDYSATLPLLIVVILENIAVCFVYGIDKFMEDLKDMLGFAPSRYYYYMWKYISPLMLLSLLIA
SVVNMGLSPPGYNAWIEDKASEEFLSYPTWGLVVCVSLVVFAILPVPVVFIVRRFNLIDDSSGNLASVTYKRGRVLKERV
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 RCV004244373 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SLC6A15 CLINVAR
OMIM 607971 CLINVAR