Product Details

Primer Sequences

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Primer Chromosome Location

Chr.1: 20327807-20328068 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

VWA5B1

Entrez Gene ID

127731

Gene Name

von Willebrand factor A domain containing 5B1

Gene Aliases

-

UniGene

Hs.205178

Gene Chromosome Location

Chr.1: 20290907-20360442 on Build GRCh38

Transcripts

NM_001039500.2 XM_006710360.3 XM_011540683.2 XM_011540684.2 XM_011540685.2 XM_011540688.2 XM_011540690.2 XM_011540691.2 XM_011540692.2 XM_011540693.1 XM_011540695.1 XM_011540697.2 XM_011540698.1 XM_017000305.1 XM_017000306.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6894091	c.1248C>A	p.Y416*	Chr.1: 20327994-20327994 on Build GRCh38
5634095	c.1184G>T	p.C395F	Chr.1: 20327930-20327930 on Build GRCh38
5135474	c.1195A>G	p.I399V	Chr.1: 20327941-20327941 on Build GRCh38
5958802	c.1226delT	p.P411fs*21	Chr.1: 20327972-20327972 on Build GRCh38
4230052	c.362C>A	p.S121Y	Chr.1: 20327957-20327957 on Build GRCh38
4230051	c.1211C>A	p.S404Y	Chr.1: 20327957-20327957 on Build GRCh38
5541652	c.1231C>T	p.P411S	Chr.1: 20327977-20327977 on Build GRCh38
5634096	c.335G>T	p.C112F	Chr.1: 20327930-20327930 on Build GRCh38
5135475	c.346A>G	p.I116V	Chr.1: 20327941-20327941 on Build GRCh38
4845004	c.1197C>T	p.I399I	Chr.1: 20327943-20327943 on Build GRCh38
2215908	c.1211C>A	p.S404Y	Chr.1: 20327957-20327957 on Build GRCh38
5541651	c.1231C>T	p.P411S	Chr.1: 20327977-20327977 on Build GRCh38
5634094	c.1184G>T	p.C395F	Chr.1: 20327930-20327930 on Build GRCh38
6879808	c.1144G>A	p.D382N	Chr.1: 20327890-20327890 on Build GRCh38
6879807	c.1144G>A	p.D382N	Chr.1: 20327890-20327890 on Build GRCh38
6879809	c.295G>A	p.D99N	Chr.1: 20327890-20327890 on Build GRCh38
5958803	c.377delT	p.P128fs*21	Chr.1: 20327972-20327972 on Build GRCh38
5958801	c.1226delT	p.P411fs*21	Chr.1: 20327972-20327972 on Build GRCh38
6894093	c.399C>A	p.Y133*	Chr.1: 20327994-20327994 on Build GRCh38
5541653	c.382C>T	p.P128S	Chr.1: 20327977-20327977 on Build GRCh38
6894092	c.1248C>A	p.Y416*	Chr.1: 20327994-20327994 on Build GRCh38
4845003	c.1197C>T	p.I399I	Chr.1: 20327943-20327943 on Build GRCh38
4845005	c.348C>T	p.I116I	Chr.1: 20327943-20327943 on Build GRCh38
1338369	c.1195A>G	p.I399V	Chr.1: 20327941-20327941 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs267598338	Chr.1: 20327977-20327977 on Build GRCh38
rs1019641828	Chr.1: 20327939-20327939 on Build GRCh38
rs764955204	Chr.1: 20327994-20327994 on Build GRCh38
rs1005113635	Chr.1: 20327897-20327897 on Build GRCh38
rs542177831	Chr.1: 20327920-20327920 on Build GRCh38
rs574886920	Chr.1: 20327911-20327911 on Build GRCh38
rs372295718	Chr.1: 20327916-20327916 on Build GRCh38
rs61739563	Chr.1: 20327970-20327970 on Build GRCh38
rs779951626	Chr.1: 20327917-20327917 on Build GRCh38
rs758304488	Chr.1: 20327891-20327891 on Build GRCh38
rs200749312	Chr.1: 20327838-20327838 on Build GRCh38
rs953765112	Chr.1: 20328037-20328037 on Build GRCh38
rs755194019	Chr.1: 20327949-20327949 on Build GRCh38
rs773216146	Chr.1: 20328031-20328031 on Build GRCh38
rs886457907	Chr.1: 20327885-20327885 on Build GRCh38
rs374203397	Chr.1: 20327876-20327876 on Build GRCh38
rs746822356	Chr.1: 20327947-20327947 on Build GRCh38
rs928544252	Chr.1: 20327987-20327987 on Build GRCh38
rs201876766	Chr.1: 20328017-20328017 on Build GRCh38
rs966172294	Chr.1: 20327969-20327969 on Build GRCh38

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