RGD:156041920 Rat Genome Database

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Variant: RGD:156041920 -  Homo sapiens

RGD ID: 156041920
ClinVar ID: CV2387777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FUT6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 5,832,343
GRCh38 19 5,832,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000150.4:c.236G>A
NM_001040701.2:c.236G>A
NM_001369502.1:c.236G>A
NM_001369504.1:c.236G>A
More... 		08/16/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FUT6
Accession:NM_001040701
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:NM_000150
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:NM_001369502
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:NM_001369504
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:NM_001369505
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:NM_001381957
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:FUT6
Accession:NM_001381959
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:FUT6
Accession:NM_001381958
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:FUT6
Accession:NM_001381956
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:NM_001381955
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:XM_047438560
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:FUT6
Accession:XM_047438557
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:XM_047438556
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:XM_047438553
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:XM_047438558
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:XM_047438561
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:FUT6
Accession:XM_047438555
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:XM_047438554
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:FUT6
Accession:XM_047438559
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPHC
SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS
DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR
WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002758812 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FUT6 CLINVAR
OMIM 136836 CLINVAR