Product Details

Primer Sequences

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Primer Chromosome Location

Chr.15: 90751726-90751900 on Build GRCh38 View in UCSC browser

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

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Cosmic ID	Mutation	AA	Transcript Location
6259673	c.816G>T	p.K272N	Chr.15: 90751803-90751803 on Build GRCh38
147984	c.893C>T	p.T298M	Chr.15: 90751880-90751880 on Build GRCh38
6947167	c.812A>G	p.K271R	Chr.15: 90751799-90751799 on Build GRCh38
3505419	c.822T>C	p.N274N	Chr.15: 90751809-90751809 on Build GRCh38
966527	c.873T>C	p.F291F	Chr.15: 90751860-90751860 on Build GRCh38
6946609	c.811_813delAAG	p.K273delK	Chr.15: 90751798-90751800 on Build GRCh38
5420979	c.863G>A	p.C288Y	Chr.15: 90751850-90751850 on Build GRCh38
1708550	c.859C>T	p.P287S	Chr.15: 90751846-90751846 on Build GRCh38
6944928	c.913C>T	p.P305S	Chr.15: 90751900-90751900 on Build GRCh38
471244	c.835G>A	p.E279K	Chr.15: 90751822-90751822 on Build GRCh38
6611772	c.868G>T	p.E290*	Chr.15: 90751855-90751855 on Build GRCh38
4057905	c.861A>G	p.P287P	Chr.15: 90751848-90751848 on Build GRCh38
6944815	c.883G>A	p.D295N	Chr.15: 90751870-90751870 on Build GRCh38
4560962	c.863G>T	p.C288F	Chr.15: 90751850-90751850 on Build GRCh38
4057906	c.875A>G	p.D292G	Chr.15: 90751862-90751862 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs775005766	Chr.15: 90751874-90751874 on Build GRCh38
rs587779895	Chr.15: 90751806-90751808 on Build GRCh38
rs763849580	Chr.15: 90751761-90751762 on Build GRCh38
rs757060569	Chr.15: 90751798-90751803 on Build GRCh38
rs139295905	Chr.15: 90751803-90751803 on Build GRCh38
rs775854853	Chr.15: 90751788-90751788 on Build GRCh38
rs139277089	Chr.15: 90751875-90751875 on Build GRCh38
rs756158096	Chr.15: 90751824-90751824 on Build GRCh38
rs763432949	Chr.15: 90751790-90751790 on Build GRCh38
rs762578852	Chr.15: 90751758-90751758 on Build GRCh38
rs201168622	Chr.15: 90751869-90751869 on Build GRCh38
rs746748670	Chr.15: 90751846-90751846 on Build GRCh38
rs141411463	Chr.15: 90751792-90751792 on Build GRCh38
rs202042636	Chr.15: 90751829-90751829 on Build GRCh38
rs758301305	Chr.15: 90751843-90751843 on Build GRCh38
rs757016773	Chr.15: 90751857-90751857 on Build GRCh38
rs149598003	Chr.15: 90751834-90751834 on Build GRCh38
rs377266736	Chr.15: 90751784-90751784 on Build GRCh38
rs750551907	Chr.15: 90751807-90751807 on Build GRCh38
rs762053925	Chr.15: 90751795-90751795 on Build GRCh38
rs147850738	Chr.15: 90751794-90751794 on Build GRCh38
rs146096923	Chr.15: 90751870-90751870 on Build GRCh38
rs769172522	Chr.15: 90751871-90751871 on Build GRCh38
rs1006578287	Chr.15: 90751860-90751860 on Build GRCh38

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