RGD:405266733 Rat Genome Database

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Variant: RGD:405266733 -  Homo sapiens

RGD ID: 405266733
ClinVar ID: CV3202076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FDPS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 155,282,065
GRCh38 1 155,312,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242825.2:c.-155T>C
NM_001135822.2:c.161T>C
NM_001242824.2:c.161T>C
NM_001378424.1:c.161T>C
More... 		06/15/2020 5 prime utr variant benign FDPS-related condition

Variant Details
Variant Transcripts
Gene Symbol:FDPS
Accession:NM_001242825
Location:5UTRS;EXON

Gene Symbol:FDPS
Accession:NM_001378424
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDQNSDVYAQEKQDFVQHFSQIVRVLTEDEMGHPEIGDAIARLKEVLEYNATGGKYNRGLTVVVAFRELVEPRKQDAD
SLQRAWTVGWCVELLQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELF
LQSSYQTEIGQTLDLLTAPQGNVDLVRFTEKRYKSIVKYKTAFYSFYLPIAAAMYMAGIDGEKEHANAKKILLEMGEFFQ
IQDDYLDLFGDPSVTGKIGTDIQDNKCSWLVVQCLQRATPEQYQILKENYGQKEAEKVARVKALYEELDLPAVFLQYEED
SYSHIMALIEQYAAPLPPAVFLGLARKIYKRRK*

Gene Symbol:FDPS
Accession:NM_001135821
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLSRWLRSVGVFLLPAPYWAPRERWLGSLRRPSLVHGYPVLAWHSARCWCQAWTEEPRALCSSLRMNGDQNSDVYAQEK
QDFVQHFSQIVRVLTEDEMGHPEIGDAIARLKEVLEYNATGGKYNRGLTVVVAFRELVEPRKQDADSLQRAWTVGWCVEL
LQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELFLQSSYQTEIGQTLD
LLTAPQGNVDLVRFTEKRYKSIVKYKTAFYSFYLPIAAAMYMAGIDGEKEHANAKKILLEMGEFFQIQDDYLDLFGDPSV
TGKIGTDIQDNKCSWLVVQCLQRATPEQYQILKENYGQKEAEKVARVKALYEELDLPAVFLQYEEDSYSHIMALIEQYAA
PLPPAVFLGLARKIYKRRK*

Gene Symbol:FDPS
Accession:NM_001135822
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDQNSDVYAQEKQDFVQHFSQIVRVLTEDEMGHPEIGDAIARLKEVLEYNATGGKYNRGLTVVVAFRELVEPRKQDAD
SLQRAWTVGWCVELLQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELF
LQSSYQTEIGQTLDLLTAPQGNVDLVRFTEKRYKSIVKYKTAFYSFYLPIAAAMYMAGIDGEKEHANAKKILLEMGEFFQ
IQDDYLDLFGDPSVTGKIGTDIQDNKCSWLVVQCLQRATPEQYQILKENYGQKEAEKVARVKALYEELDLPAVFLQYEED
SYSHIMALIEQYAAPLPPAVFLGLARKIYKRRK*

Gene Symbol:FDPS
Accession:NM_002004
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLSRWLRSVGVFLLPAPYWAPRERWLGSLRRPSLVHGYPVLAWHSARCWCQAWTEEPRALCSSLRMNGDQNSDVYAQEK
QDFVQHFSQIVRVLTEDEMGHPEIGDAIARLKEVLEYNATGGKYNRGLTVVVAFRELVEPRKQDADSLQRAWTVGWCVEL
LQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELFLQSSYQTEIGQTLD
LLTAPQGNVDLVRFTEKRYKSIVKYKTAFYSFYLPIAAAMYMAGIDGEKEHANAKKILLEMGEFFQIQDDYLDLFGDPSV
TGKIGTDIQDNKCSWLVVQCLQRATPEQYQILKENYGQKEAEKVARVKALYEELDLPAVFLQYEEDSYSHIMALIEQYAA
PLPPAVFLGLARKIYKRRK*

Gene Symbol:FDPS
Accession:NM_001242824
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDQNSDVYAQEKQDFVQHFSQIVRVLTEDEMGHPEIGDAIARLKEVLEYNATGGKYNRGLTVVVAFRELVEPRKQDAD
SLQRAWTVGWCVELLQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELF
LQSSYQTEIGQTLDLLTAPQGNVDLVRFTEKRYKSIVKYKTAFYSFYLPIAAAMYMAGIDGEKEHANAKKILLEMGEFFQ
IQDDYLDLFGDPSVTGKIGTDIQDNKCSWLVVQCLQRATPEQYQILKENYGQKEAEKVARVKALYEELDLPAVFLQYEED
SYSHIMALIEQYAAPLPPAVFLGLARKIYKRRK*

Gene Symbol:FDPS
Accession:NM_001378425
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDQNSDVYAQEKQDFVQHFSQIVRVLTEDEMGHPEIGDAIARLKEVLEYNATGGKYNRGLTVVVAFRELVEPRKQDAD
SLQRAWTVGWCVELLQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELF
LQSSYQTEIGQTLDLLTAPQGNVDLVRFTEKRYKSIVKYKTAFYSFYLPIAAAMYMAGIDGEKEHANAKKILLEMGEFFQ
IQDDYLDLFGDPSVTGKIGTDIQDNKCSWLVVQCLQRATPEQYQILKENYGQKEAEKVARVKALYEELDLPAVFLQYEED
SYSHIMALIEQYAAPLPPAVFLGLARKIYKRRK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003911557 CLINVAR
NCBI Gene FDPS CLINVAR
OMIM 134629 CLINVAR