Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 90747280-90747551 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_011521882.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3505417 c.10G>T p.V4F Chr.15: 90747402-90747402 on Build GRCh38
7357560 c.98C>T p.S33L Chr.15: 90747490-90747490 on Build GRCh38
6998569 c.94T>A p.F32I Chr.15: 90747486-90747486 on Build GRCh38
5575786 c.25C>A p.L9I Chr.15: 90747417-90747417 on Build GRCh38
6838885 c.7G>A p.A3T Chr.15: 90747399-90747399 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1041698564 Chr.15: 90747325-90747326 on Build GRCh38
rs757172775 Chr.15: 90747440-90747440 on Build GRCh38
rs776826506 Chr.15: 90747420-90747420 on Build GRCh38
rs866546098 Chr.15: 90747387-90747387 on Build GRCh38
rs544562406 Chr.15: 90747338-90747338 on Build GRCh38
rs748880285 Chr.15: 90747506-90747506 on Build GRCh38
rs752755503 Chr.15: 90747436-90747436 on Build GRCh38
rs148545569 Chr.15: 90747435-90747435 on Build GRCh38
rs760982604 Chr.15: 90747405-90747405 on Build GRCh38
rs759714714 Chr.15: 90747433-90747433 on Build GRCh38
rs750293380 Chr.15: 90747491-90747491 on Build GRCh38
rs372771577 Chr.15: 90747410-90747410 on Build GRCh38
rs777522939 Chr.15: 90747376-90747378 on Build GRCh38
rs144706057 Chr.15: 90747403-90747403 on Build GRCh38
rs139282091 Chr.15: 90747490-90747490 on Build GRCh38
rs774981125 Chr.15: 90747384-90747384 on Build GRCh38
rs199769364 Chr.15: 90747396-90747396 on Build GRCh38
rs542763700 Chr.15: 90747325-90747325 on Build GRCh38
rs886051550 Chr.15: 90747496-90747496 on Build GRCh38
rs200399224 Chr.15: 90747400-90747400 on Build GRCh38
rs1057516593 Chr.15: 90747394-90747394 on Build GRCh38
rs28384975 Chr.15: 90747523-90747523 on Build GRCh38

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