RGD:8637228 Rat Genome Database

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Variant: RGD:8637228 -  Homo sapiens

RGD ID: 8637228
ClinVar ID: CV92454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGM6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 2,413,179
GRCh38 20 2,432,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198994.2:c.2011G>A
NG_031917.1:g.56626G>A
NC_000020.11:g.2432533G>A
NC_000020.10:g.2413179G>A
More... 		missense|synonymous variant|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:TGM6
Accession:NM_198994
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 671
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGIRVTKVDWQRSRNGAAHHTQEYPCPELVVRRGQSFSLTLELSRALDCEEILIFTMETGPRASEALHTKAVFQTSELE
RGEGWTAAREAQMEKTLTVSLASPPSAVIGRYLLSIRLSSHRKHSNRRLGEFVLLFNPWCAEDDVFLASEEERQEYVLSD
SGIIFRGVEKHIRAQGWNYGQFEEDILNICLSILDRSPGHQNNPATDVSCRHNPIYVTRVISAMVNSNNDRGVVQGQWQG
KYGGGTSPLHWRGSVAILQKWLKGRYKPVKYGQCWVFAGVLCTVLRCLGIATRVVSNFNSAHDTDQNLSVDKYVDSFGRT
LEDLTEDSMWNFHVWNESWFARQDLGPSYNGWQVLDATPQEESEGVFRCGPASVTAIREGDVHLAHDGPFVFAEVNADYI
TWLWHEDESRERVYSNTKKIGRCISTKAVGSDSRVDITDLYKYPEGSRKERQVYSKAVNRLFGVEASGRRIWIRRAGGRC
LWRDDLLEPATKPSIAGKFKVLEPPMLGHDLRLALCLANLTSRAQRVRVNLSGATILYTRKPVAEILHESHAVRLGPQEE
KRIPITISYSKYKEDLTEDKKILLAAMCLVTKGEKLLVEKDITLEDFITIKVLGPAMVGVAVTVEVTVVNPLIERVKDCA
LMVEGSGLLQEQLSIDVPTLEPQERASVQFNITPSKSGPRQLQVDLVSPHFPDIKGFVIVHVATAK*

Gene Symbol:TGM6
Accession:NM_001254734
Location:EXON

Variant Samples