Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 90751884-90752117 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
BLM
Entrez Gene ID
641
Gene Name
Bloom syndrome RecQ like helicase
Gene Aliases
BS, RECQ2, RECQL2, RECQL3
UniGene
Hs.725208
Gene Chromosome Location
Chr.15: 90717327-90815462 on Build GRCh38
Transcripts
NM_000057.3 NM_001287246.1 NM_001287247.1 NM_001287248.1 XM_011521881.2 XM_011521882.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6944928 c.913C>T p.P305S Chr.15: 90751900-90751900 on Build GRCh38
2140161 c.953G>C p.C318S Chr.15: 90751940-90751940 on Build GRCh38
7089487 c.944C>A p.S315Y Chr.15: 90751931-90751931 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs759133669 Chr.15: 90752021-90752021 on Build GRCh38
rs373441409 Chr.15: 90752077-90752077 on Build GRCh38
rs1055594157 Chr.15: 90752068-90752068 on Build GRCh38
rs764067671 Chr.15: 90751923-90751923 on Build GRCh38
rs140864968 Chr.15: 90752082-90752082 on Build GRCh38
rs750371905 Chr.15: 90751969-90751971 on Build GRCh38
rs938971833 Chr.15: 90752065-90752065 on Build GRCh38
rs927263666 Chr.15: 90752045-90752045 on Build GRCh38
rs1044380242 Chr.15: 90752031-90752031 on Build GRCh38
rs547092025 Chr.15: 90752049-90752049 on Build GRCh38
rs753911420 Chr.15: 90751918-90751918 on Build GRCh38
rs564966225 Chr.15: 90751919-90751921 on Build GRCh38
rs938205022 Chr.15: 90752051-90752051 on Build GRCh38
rs76657660 Chr.15: 90752082-90752082 on Build GRCh38
rs79733333 Chr.15: 90752081-90752081 on Build GRCh38
rs751438275 Chr.15: 90751928-90751928 on Build GRCh38
rs200393633 Chr.15: 90752081-90752082 on Build GRCh38
rs781047759 Chr.15: 90751997-90751997 on Build GRCh38
rs757112333 Chr.15: 90751946-90751946 on Build GRCh38
rs765061205 Chr.15: 90751944-90751952 on Build GRCh38
rs372454889 Chr.15: 90751921-90751921 on Build GRCh38
rs766958628 Chr.15: 90752063-90752063 on Build GRCh38
rs1047715686 Chr.15: 90752083-90752083 on Build GRCh38
rs989332416 Chr.15: 90751990-90751990 on Build GRCh38
rs767429235 Chr.15: 90751950-90751950 on Build GRCh38
rs528829650 Chr.15: 90752028-90752028 on Build GRCh38
rs928087924 Chr.15: 90752029-90752029 on Build GRCh38

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