RGD:126916860 Rat Genome Database

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Variant: RGD:126916860 -  Homo sapiens

RGD ID: 126916860
RS ID: rs2146035375
ClinVar ID: CV1051641
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD12  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 25,319,899
GRCh38 20 25,339,263
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042472.3:c.280C>G
NM_015600.5:c.280C>G
NG_028119.1:g.56720C>G
NC_000020.11:g.25339263G>C
More...
04/18/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ABHD12
Accession:XM_047440093
Location:5UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440092
Location:5UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440094
Location:5UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440091
Location:5UTRS;EXON

Gene Symbol:ABHD12
Accession:NM_015600
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRPQQGPGSSPDPSMW
SELV*

Gene Symbol:ABHD12
Accession:NM_001042472
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:XM_011529214
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRGLKLVA*

Gene Symbol:ABHD12
Accession:XM_017027797
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRSSCVREAARSQHRGRPSTETGLLRGQGRGPVWHQGMSGLGANIL*

Gene Symbol:ABHD12
Accession:XM_047440090
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKGIPGEVGA*

Gene Symbol:ABHD12
Accession:XM_047440089
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGGHGGVCFLCCILLQGRKGVWLRLRKILFCVLGLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHT
CNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDY
RGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSH
PFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFH
SDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:XM_047440087
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGPGWEWAGGKAAPACCITGCAPATSGSGGHLILPASP
PGCFGRTWEVWCKGWGRGPLMLSPRI*

Gene Symbol:ABHD12
Accession:XM_047440088
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGGHGGVCFLCCILLQGRKGVWLRLRKILFCVLGLYIAIPFLIKLCAGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHT
CNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDY
RGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSH
PFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGP
GWEWAGGKAAPACCITGCAPATSGSGGHLILPASPPGCFGRTWEVWCKGWGRGPLMLSPRI*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001371749 CLINVAR
dbSNP (RS) rs2146035375 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABHD12 CLINVAR
OMIM 613599 CLINVAR