RGD:127230096 Rat Genome Database

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Variant: RGD:127230096 -  Homo sapiens

RGD ID: 127230096
RS ID: rs777592249
ClinVar ID: CV1085192
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 25,300,837
GRCh38 20 25,320,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.25300837G>A
NP_001035937.1:p.Thr180=
NP_056415.1:p.Thr180=
NM_001042472.3:c.540C>T
More...
10/05/2022 synonymous variant likely benign|conflicting interpretations of pathogenicity none provided

Variant Details
Variant Transcripts
Gene Symbol:ABHD12
Accession:XM_047440094
Location:5UTRS;INTRON

Gene Symbol:ABHD12
Accession:NM_015600
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRPQQGPGSSPDPSMW
SELV*

Gene Symbol:ABHD12
Accession:NM_001042472
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:XM_011529214
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRGLKLVA*

Gene Symbol:ABHD12
Accession:XM_017027797
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRSSCVREAARSQHRGRPSTETGLLRGQGRGPVWHQGMSGLGANIL*

Gene Symbol:ABHD12
Accession:XM_047440090
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKGIPGEVGA*

Gene Symbol:ABHD12
Accession:XM_047440093
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGD
NPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDEN
VKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQ
H*

Gene Symbol:ABHD12
Accession:XM_047440089
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGGHGGVCFLCCILLQGRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHT
CNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDY
RGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSH
PFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFH
SDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:XM_047440087
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGPGWEWAGGKAAPACCITGCAPATSGSGGHLILPASP
PGCFGRTWEVWCKGWGRGPLMLSPRI*

Gene Symbol:ABHD12
Accession:XM_047440092
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGD
NPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDEN
VKHISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGPGWEWAGGKAAPACCITGCAPATSGSGGHLILP
ASPPGCFGRTWEVWCKGWGRGPLMLSPRI*

Gene Symbol:ABHD12
Accession:XM_047440091
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGD
NPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDEN
VKHISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGPGWEWAGGKAAPACCITGCAPATSGSGGHLILP
ASPPGCFGRTWEVWCKGWGRGPLMLSPRI*

Gene Symbol:ABHD12
Accession:XM_047440088
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGGHGGVCFLCCILLQGRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHT
CNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDY
RGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSH
PFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGP
GWEWAGGKAAPACCITGCAPATSGSGGHLILPASPPGCFGRTWEVWCKGWGRGPLMLSPRI*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001412345 CLINVAR
dbSNP (RS) rs777592249 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABHD12 CLINVAR
OMIM 613599 CLINVAR