RGD:401744735 Rat Genome Database

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Variant: RGD:401744735 -  Homo sapiens

RGD ID: 401744735
ClinVar ID: CV2697062
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 75,512,616
GRCh38 16 75,478,718
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1252t1:c.1111G>A
NM_021615.5:c.1111G>A
LRG_1252:g.21724G>A
NG_016442.2:g.21724G>A
More... 		05/05/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHST6
Accession:NM_021615
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWHVWTTL
SQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFPRGAISSEAVCKPLCARQSFTL
AREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIVLGTNGTWVEADPGLR
VVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLEAWIHNITHGSGPGARREAFK
TSSRNALNVSQAWRHALPFAKIRRVQELCAGALQLLGYRPVYSEDEQRNLTLDLVLPRGLNGFTWASSTASHPRN*

Gene Symbol:CHST6
Accession:NR_163480
Location:INTRON;NON-CODING

Gene Symbol:CHST6
Accession:NR_163481
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003241645 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CHST6 CLINVAR
OMIM 605294 CLINVAR