RGD:126754159 Rat Genome Database

Variant: RGD:126754159 - Homo sapiens

RGD ID:

126754159

RS ID:

rs2090161558

ClinVar ID:

CV998924

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ABHD12 LOC130065586

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	20	25,371,206
GRCh38	20	25,390,570

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001042472.3:c.134C>G NG_028119.1:g.5413C>G NC_000020.11:g.25390570G>C NC_000020.10:g.25371206G>C More...	10/24/2020	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	ABHD12
Accession:	NM_015600
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGRAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRPQQGPGSSPDPSMW SELV*

Gene Symbol:	ABHD12
Accession:	NM_001042472
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGRAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:	ABHD12
Accession:	XM_011529214
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGRAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRGLKLVA*

Gene Symbol:	ABHD12
Accession:	XM_017027797
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGRAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY EDALASSHPIILYLHGNAGTRSSCVREAARSQHRGRPSTETGLLRGQGRGPVWHQGMSGLGANIL*

Gene Symbol:	ABHD12
Accession:	XM_047440087
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGRAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH ISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGPGWEWAGGKAAPACCITGCAPATSGSGGHLILPASP PGCFGRTWEVWCKGWGRGPLMLSPRI*

Gene Symbol:	ABHD12
Accession:	XM_047440090
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGRAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH ISCPLLILHAEDDPVVPFQLGRKGIPGEVGA*

Gene Symbol:	ABHD12
Accession:	XM_047440094
Location:	INTRON

Gene Symbol:	ABHD12
Accession:	XM_047440091
Location:	INTRON

Gene Symbol:	ABHD12
Accession:	XM_047440093
Location:	INTRON

Gene Symbol:	ABHD12
Accession:	XM_047440092
Location:	INTRON

Gene Symbol:	ABHD12
Accession:	XM_047440089
Location:	INTRON

Gene Symbol:	ABHD12
Accession:	XM_047440088
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001298061	CLINVAR
dbSNP (RS)	rs2090161558	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	ABHD12	CLINVAR
	LOC130065586	CLINVAR
OMIM	613599	CLINVAR

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:126754159 - Homo sapiens