Full data view for gene PUS1

Information The variants shown are described using the NM_025215.5 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.441+2676A>G - - - Unknown g.132419533A>G dbSNP PUS1_000001 rs4965006 0.88345 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.442-1000C>T - - - Unknown g.132422718C>T dbSNP PUS1_000002 rs4965005 0.66047 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.545-893A>G - - - Unknown g.132424944A>G dbSNP PUS1_000003 rs10902482 0.10304 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.545-328A>C - r.(=) p.(=) Unknown g.132425509A>C dbSNP PUS1_000004 rs6598177 0.97128 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1237-243A>G - - - Unknown g.132427841A>G dbSNP PUS1_000005 rs11837013 0.93074 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
Legend