RGD:156207049 Rat Genome Database

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Variant: RGD:156207049 -  Homo sapiens

RGD ID: 156207049
ClinVar ID: CV2382312
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DGAT2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 75,501,335
GRCh38 11 75,790,290
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001253891.2:c.224A>C
NM_032564.5:c.353A>C
NG_046775.1:g.26558A>C
NC_000011.10:g.75790290A>C
More...
10/26/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DGAT2
Accession:XM_011545304
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSVKGSPVTGTGSSILSALQDLFSVTWLNRSKVEKQLQVISVLQWVLSFLVLGVACSAILMYIFCTDCWLIAVLYFTWL
VFDWNTPTKGGRRSQWVRNWAVWRYFRDYFPIQLVKTHNLLTTRNYIFGYHPHGIMGLGAFCNFSTEATEVSKKFPGIRP
YLATLAGNFRMPVLREYLMSGGICPVSRDTIDYLLSKNGSGNAIIIVVGGAAESLSSMPGKNAVTLRNRKGFVKLALRHG
ADLVPIYSFGENEVYKQVIFEEGSWGRWVQKKFQKYIGFAPCIFHGRGLFSSDTWGLVPYSKPITTVVGEPITIPKLEHP
TQQDIDLYHTMYMEALVKLFDKHKTKFGLPETEVLEVN*

Gene Symbol:DGAT2
Accession:NM_032564
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLIAAYSGVLRGERQAEADRSQRSHGGPALSREGSGRWGTGSSILSALQDLFSVTWLNRSKVEKQLQVISVLQWVLSF
LVLGVACSAILMYIFCTDCWLIAVLYFTWLVFDWNTPTKGGRRSQWVRNWAVWRYFRDYFPIQLVKTHNLLTTRNYIFGY
HPHGIMGLGAFCNFSTEATEVSKKFPGIRPYLATLAGNFRMPVLREYLMSGGICPVSRDTIDYLLSKNGSGNAIIIVVGG
AAESLSSMPGKNAVTLRNRKGFVKLALRHGADLVPIYSFGENEVYKQVIFEEGSWGRWVQKKFQKYIGFAPCIFHGRGLF
SSDTWGLVPYSKPITTVVGEPITIPKLEHPTQQDIDLYHTMYMEALVKLFDKHKTKFGLPETEVLEVN*

Gene Symbol:DGAT2
Accession:XM_047427716
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYIFCTDCWLIAVLYFTWLVFDWNTPTKGGRRSQWVRNWAVWRYFRDYFPIQLVKTHNLLTTRNYIFGYHPHGIMGLGAF
CNFSTEATEVSKKFPGIRPYLATLAGNFRMPVLREYLMSGGICPVSRDTIDYLLSKNGSGNAIIIVVGGAAESLSSMPGK
NAVTLRNRKGFVKLALRHGADLVPIYSFGENEVYKQVIFEEGSWGRWVQKKFQKYIGFAPCIFHGRGLFSSDTWGLVPYS
KPITTVVGEPITIPKLEHPTQQDIDLYHTMYMEALVKLFDKHKTKFGLPETEVLEVN*

Gene Symbol:DGAT2
Accession:NM_001253891
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLIAAYSGVLRGERQAEADRSQRSHGGPALSREGSGRWGVACSAILMYIFCTDCWLIAVLYFTWLVFDWNTPTKGGRR
SQWVRNWAVWRYFRDYFPIQLVKTHNLLTTRNYIFGYHPHGIMGLGAFCNFSTEATEVSKKFPGIRPYLATLAGNFRMPV
LREYLMSGGICPVSRDTIDYLLSKNGSGNAIIIVVGGAAESLSSMPGKNAVTLRNRKGFVKLALRHGADLVPIYSFGENE
VYKQVIFEEGSWGRWVQKKFQKYIGFAPCIFHGRGLFSSDTWGLVPYSKPITTVVGEPITIPKLEHPTQQDIDLYHTMYM
EALVKLFDKHKTKFGLPETEVLEVN*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002743822 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DGAT2 CLINVAR
OMIM 606983 CLINVAR