Full data view for gene AASDHPPT

Information The variants shown are described using the NM_015423.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.-3941T>C r.(=) p.(=) utr-5 Unknown g.105944497T>C chr11_025348 rs7122457 -0.75 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-3834T>C r.(=) p.(=) utr-5 Unknown g.105944604T>C chr11_025349 rs11226915 -0.712 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-3590C>A r.(=) p.(=) utr-5 Unknown g.105944848C>A chr11_025350 rs146153202 -0.014 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-3061G>C r.(=) p.(=) utr-5 Unknown g.105945377G>C chr11_025351 rs4237618 -1.086 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-507A>T r.(=) p.(=) utr-5 Unknown g.105947931A>T chr11_025352 rs4440991 -2.176 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-325G>A r.(=) p.(=) utr-5 Unknown g.105948113G>A chr11_025353 rs4565867 -1.697 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*2125C>T r.(=) p.(=) utr-3 Unknown g.105969759C>T chr11_025360 rs189236721 -0.296 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*2500G>A r.(=) p.(=) utr-3 Unknown g.105970134G>A chr11_025361 rs10895904 0.31 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*3172G>T r.(=) p.(=) utr-3 Unknown g.105970806G>T chr11_025362 rs7946700 -0.416 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*4380G>A r.(=) p.(=) utr-3 Unknown g.105972014G>A chr11_025363 rs1939798 -0.683 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*5306G>A r.(=) p.(=) utr-3 Unknown g.105972940G>A chr11_025364 rs1939797 -0.84 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*5695T>C r.(=) p.(=) utr-3 Unknown g.105973329T>C chr11_025365 rs193257499 0.274 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
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