rs1700769766 Rat Genome Database

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Variant: rs1700769766 - Homo sapiens

RGD ID:

26903602

RS ID:

rs1700769766

ClinVar ID:

CV858509

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127396809 SLC6A6

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	14,513,812
GRCh38	3	14,472,304

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_003043.5:c.1196G>T NM_001134367.3:c.1499G>T NC_000003.12:g.14472304G>T NC_000003.11:g.14513812G>T More...	05/24/2021	missense variant	pathogenic\|likely pathogenic	Hypertaurinuric cardiomyopathy

Disease Annotations Click to see Annotation Detail View

Hypertaurinuric Cardiomyopathy (IAGP)

retinal degeneration (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Retinal degeneration (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC6A6
Accession:	NM_001134367
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	500

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDAESCLLRQQTREVRKKPLINYRFLRAAANAEPRGPQAQRTSCAKRECGAFTQRVRERAGRQPPAGGTRHSRAERGRR RSHPRSRTRTTALLRSSQTKEMATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFV GLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYI VILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWD LALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIF FSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVT MMPLPTFWSILFFIMLLLLVLDSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFD YYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYP NWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETM M*

Gene Symbol:	SLC6A6
Accession:	XM_006713307
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	428

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAESADGAALGPASGCGNRPPSTQESKEMATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFV LSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIV SLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGID HPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVW IDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAF IAYPKAVTMMPLPTFWSILFFIMLLLLVLDSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGG MYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLT YNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKP THIIVETMM*

Gene Symbol:	SLC6A6
Accession:	XM_047448763
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAESADGAALGPASGCGNRPPSTQESKEMATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFV LSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIV SLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGID HPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVW IDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRSWPGLHCLPKSCDNDAAAHILVHSFFYYASLACTG*

Gene Symbol:	SLC6A6
Accession:	XM_047448762
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	228

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTAT FPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGC LNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLVLDSQFVEVEGQI TSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDG IEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGP FLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETMM*

Gene Symbol:	SLC6A6
Accession:	NM_003043
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFL IPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWA HCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVR STGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKY NSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLVL DSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIA WIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLV IVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETMM*

Gene Symbol:	SLC6A6
Accession:	XM_011534030
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFL IPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWA HCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVR STGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKY NSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLVL DSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIA WIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLV IVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETMM*

Gene Symbol:	SLC6A6
Accession:	XR_940495
Location:	EXON;NON-CODING

Gene Symbol:	SLC6A6
Accession:	NR_103507
Location:	EXON;NON-CODING

Gene Symbol:	SLC6A6
Accession:	NM_001134368
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:31903486

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001089879	CLINVAR
	RCV001449580	CLINVAR
dbSNP (RS)	rs1700769766	CLINVAR
MedGen	C0035304	CLINVAR
	C5542181	CLINVAR
NCBI Gene	SLC6A6	CLINVAR
OMIM	145350	CLINVAR
	186854	CLINVAR
OMIM Allele	186854.0001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: rs1700769766 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs1700769766 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar