Full data view for gene ABHD1

Information The variants shown are described using the NM_032604.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     

Allele     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

PhyloP conservation     

Template     

Technique     

Tissue     

Disease     

Reference     

Gender     

Remarks     

Panel size     

Owner     
?/? c.-4750G>C r.(=) p.(=) utr-5 Unknown g.27342067G>C chr2_003673 rs7560633 0.611 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-2360T>A r.(=) p.(=) utr-5 Unknown g.27344457T>A chr2_003674 rs11126871 0.267 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-1333G>A r.(=) p.(=) utr-5 Unknown g.27345484G>A chr2_003675 rs7605526 0.183 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.411T>G r.(?) p.(Asp137Glu) missense Unknown g.27351948T>G chr2_003681 rs6715286 0.673 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*561C>A r.(=) p.(=) utr-3 Unknown g.27354173C>A chr2_003682 rs11126874 -0.173 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*1842A>C r.(=) p.(=) utr-3 Unknown g.27355454A>C chr2_003683 rs4665948 0.645 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*3317G>C r.(=) p.(=) utr-3 Unknown g.27356929G>C chr2_003684 rs72810711 0.552 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
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