RGD:156257439 Rat Genome Database

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Variant: RGD:156257439 -  Homo sapiens

RGD ID: 156257439
ClinVar ID: CV2204579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 346,406
GRCh38 12 237,240
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001177926.1:p.Arg113His
NP_057699.2:p.Arg205His
NM_001190997.3:c.338G>A
NM_016615.5:c.614G>A
More... 		01/26/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A13
Accession:XM_017019845
Location:5UTRS;EXON

Gene Symbol:SLC6A13
Accession:XM_006719008
Location:5UTRS;INTRON

Gene Symbol:SLC6A13
Accession:NM_016615
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYLVFLFT
CGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQMIVILLNVYYIIVLAWALFYLFSSFTIDLPWGGCYHEWNTE
HCMEFQKTNGSLNGTSENATSPVIEFWERRVLKISDGIQHLGALHWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATF
PYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTALGSYNKYHNNCYRDCIALCFL
NSGTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVT
ALVDMYPHVFRKKNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNI
EDMIGYRPWPLIKYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYTYPWWGDALGWLLALSSMVCIPAWSLYRLGTLKGPF
RERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELESHC*

Gene Symbol:SLC6A13
Accession:NM_001190997
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGEHCMEFQKTNGSL
NGTSENATSPVIEFWERRVLKISDGIQHLGALHWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVVLLIRG
VTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTALGSYNKYHNNCYRDCIALCFLNSGTSFVAGFAI
FSILGFMSQEQGVPISEVAESGPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMYPHVFRK
KNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNIEDMIGYRPWPLI
KYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYTYPWWGDALGWLLALSSMVCIPAWSLYRLGTLKGPFRERIRQLMCPAE
DLPQRNPAGPSAPATPRTSLLRLTELESHC*

Gene Symbol:SLC6A13
Accession:XM_047429420
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFQKTNGSLNGTSENATSPVIEFWERRVLKISDGIQHLGALHWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPY
LMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTALGSYNKYHNNCYRDCIALCFLNS
GTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTAL
VDMYPHVFRKKNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNIED
MIGYRPWPLIKYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYTYPWWGDALGWLLALSSMVCIPAWSLYRLGTLKGPFRE
RIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELESHC*

Gene Symbol:SLC6A13
Accession:NM_001243392
Location:INTRON

Gene Symbol:SLC6A13
Accession:XM_017019842
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002668747 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SLC6A13 CLINVAR
OMIM 615097 CLINVAR