Product Details

Primer Sequences

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Primer Chromosome Location

Chr.7: 71420826-71421322 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

WBSCR17

Entrez Gene ID

64409

Gene Name

Williams-Beuren syndrome chromosome region 17

Gene Aliases

GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T5L

UniGene

Hs.488591

Gene Chromosome Location

Chr.7: 71132414-71713601 on Build GRCh38

Transcripts

NM_022479.2 XM_011516467.2 XM_011516469.2 XM_017012521.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
5541677	c.778C>T	p.L260L	Chr.7: 71420921-71420921 on Build GRCh38
4856839	c.793G>A	p.E265K	Chr.7: 71420936-71420936 on Build GRCh38
3950734	c.790C>A	p.Q264K	Chr.7: 71420933-71420933 on Build GRCh38
4572664	c.824T>C	p.I275T	Chr.7: 71420967-71420967 on Build GRCh38
6821386	c.779T>C	p.L260P	Chr.7: 71420922-71420922 on Build GRCh38
1270350	c.806G>A	p.R269H	Chr.7: 71420949-71420949 on Build GRCh38
6333973	c.806G>T	p.R269L	Chr.7: 71420949-71420949 on Build GRCh38
3882168	c.853G>A	p.V285M	Chr.7: 71420996-71420996 on Build GRCh38
4006747	c.872C>G	p.S291W	Chr.7: 71421015-71421015 on Build GRCh38
4740790	c.799C>T	p.R267W	Chr.7: 71420942-71420942 on Build GRCh38
3882166	c.831C>T	p.N277N	Chr.7: 71420974-71420974 on Build GRCh38
1270354	c.951T>C	p.S317S	Chr.7: 71421094-71421094 on Build GRCh38
3982255	c.864C>T	p.Y288Y	Chr.7: 71421007-71421007 on Build GRCh38
4757084	c.899G>T	p.W300L	Chr.7: 71421042-71421042 on Build GRCh38
1270358	c.911T>G	p.I304S	Chr.7: 71421054-71421054 on Build GRCh38
3882170	c.961A>G	p.R321G	Chr.7: 71421104-71421104 on Build GRCh38
6821398	c.806G>C	p.R269P	Chr.7: 71420949-71420949 on Build GRCh38
4799376	c.962+1G>A	p.?	Chr.7: 71421106-71421106 on Build GRCh38
747240	c.819C>G	p.P273P	Chr.7: 71420962-71420962 on Build GRCh38
3698525	c.805C>T	p.R269C	Chr.7: 71420948-71420948 on Build GRCh38
1091454	c.887G>T	p.S296I	Chr.7: 71421030-71421030 on Build GRCh38
5663515	c.895C>G	p.L299V	Chr.7: 71421038-71421038 on Build GRCh38
1292535	c.957C>A	p.P319P	Chr.7: 71421100-71421100 on Build GRCh38
1698721	c.782C>T	p.S261F	Chr.7: 71420925-71420925 on Build GRCh38
3086426	c.765-1G>T	p.?	Chr.7: 71420907-71420907 on Build GRCh38
1091456	c.937G>T	p.A313S	Chr.7: 71421080-71421080 on Build GRCh38
1451906	c.800G>A	p.R267Q	Chr.7: 71420943-71420943 on Build GRCh38
6577782	c.880G>A	p.G294R	Chr.7: 71421023-71421023 on Build GRCh38
3640208	c.934G>A	p.D312N	Chr.7: 71421077-71421077 on Build GRCh38
195248	c.773C>T	p.P258L	Chr.7: 71420916-71420916 on Build GRCh38
6548344	c.892G>T	p.E298*	Chr.7: 71421035-71421035 on Build GRCh38
3086431	c.880G>T	p.G294W	Chr.7: 71421023-71421023 on Build GRCh38
5737951	c.917C>A	p.P306H	Chr.7: 71421060-71421060 on Build GRCh38
4509936	c.821C>T	p.S274F	Chr.7: 71420964-71420964 on Build GRCh38
6178346	c.841G>T	p.D281Y	Chr.7: 71420984-71420984 on Build GRCh38
5407836	c.881_882GG>AA	p.G294E	Chr.7: 71421024-71421025 on Build GRCh38
1451908	c.878A>G	p.H293R	Chr.7: 71421021-71421021 on Build GRCh38
3929153	c.937G>A	p.A313T	Chr.7: 71421080-71421080 on Build GRCh38
3640210	c.960C>T	p.I320I	Chr.7: 71421103-71421103 on Build GRCh38
195251	c.929G>A	p.W310*	Chr.7: 71421072-71421072 on Build GRCh38
3833124	c.774G>T	p.P258P	Chr.7: 71420917-71420917 on Build GRCh38
1232511	c.784C>T	p.R262C	Chr.7: 71420927-71420927 on Build GRCh38
4606148	c.940G>A	p.G314R	Chr.7: 71421083-71421083 on Build GRCh38
216789	c.879C>T	p.H293H	Chr.7: 71421022-71421022 on Build GRCh38
7397569	c.765G>T	p.W255C	Chr.7: 71420908-71420908 on Build GRCh38
1270351	c.857A>G	p.Q286R	Chr.7: 71421000-71421000 on Build GRCh38
4902763	c.801G>A	p.R267R	Chr.7: 71420944-71420944 on Build GRCh38
222125	c.865G>A	p.E289K	Chr.7: 71421008-71421008 on Build GRCh38
3882167	c.845A>C	p.N282T	Chr.7: 71420988-71420988 on Build GRCh38
400075	c.819C>A	p.P273P	Chr.7: 71420962-71420962 on Build GRCh38
316499	c.958A>G	p.I320V	Chr.7: 71421101-71421101 on Build GRCh38
108410	c.954C>T	p.L318L	Chr.7: 71421097-71421097 on Build GRCh38
3882165	c.785G>A	p.R262H	Chr.7: 71420928-71420928 on Build GRCh38
6821401	c.844A>C	p.N282H	Chr.7: 71420987-71420987 on Build GRCh38
3882171	c.962+2T>C	p.?	Chr.7: 71421107-71421107 on Build GRCh38
4153066	c.791A>C	p.Q264P	Chr.7: 71420934-71420934 on Build GRCh38
165549	c.936C>T	p.D312D	Chr.7: 71421079-71421079 on Build GRCh38
3882169	c.908A>G	p.Y303C	Chr.7: 71421051-71421051 on Build GRCh38
1091455	c.925G>T	p.D309Y	Chr.7: 71421068-71421068 on Build GRCh38
6482066	c.869A>G	p.N290S	Chr.7: 71421012-71421012 on Build GRCh38
5676292	c.880G>C	p.G294R	Chr.7: 71421023-71421023 on Build GRCh38
1313256	c.892G>A	p.E298K	Chr.7: 71421035-71421035 on Build GRCh38
1091453	c.774G>A	p.P258P	Chr.7: 71420917-71420917 on Build GRCh38
6894099	c.783C>T	p.S261S	Chr.7: 71420926-71420926 on Build GRCh38
747241	c.780A>T	p.L260L	Chr.7: 71420923-71420923 on Build GRCh38
195249	c.860G>A	p.R287Q	Chr.7: 71421003-71421003 on Build GRCh38
3640207	c.790C>T	p.Q264*	Chr.7: 71420933-71420933 on Build GRCh38
3086432	c.910A>G	p.I304V	Chr.7: 71421053-71421053 on Build GRCh38
6178347	c.805C>A	p.R269S	Chr.7: 71420948-71420948 on Build GRCh38
7116608	c.890G>T	p.W297L	Chr.7: 71421033-71421033 on Build GRCh38
4513685	c.947C>T	p.P316L	Chr.7: 71421090-71421090 on Build GRCh38
6548343	c.891G>T	p.W297C	Chr.7: 71421034-71421034 on Build GRCh38
3086429	c.859C>A	p.R287R	Chr.7: 71421002-71421002 on Build GRCh38
345989	c.765-2A>T	p.?	Chr.7: 71420906-71420906 on Build GRCh38
2149396	c.939C>T	p.A313A	Chr.7: 71421082-71421082 on Build GRCh38
3833125	c.947C>A	p.P316H	Chr.7: 71421090-71421090 on Build GRCh38
6821382	c.781T>C	p.S261P	Chr.7: 71420924-71420924 on Build GRCh38
1451907	c.859C>T	p.R287W	Chr.7: 71421002-71421002 on Build GRCh38
85038	c.902G>T	p.C301F	Chr.7: 71421045-71421045 on Build GRCh38
485518	c.930G>T	p.W310C	Chr.7: 71421073-71421073 on Build GRCh38
3640209	c.955C>T	p.P319S	Chr.7: 71421098-71421098 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs761079507	Chr.7: 71421003-71421003 on Build GRCh38
rs376285148	Chr.7: 71421109-71421109 on Build GRCh38
rs144050734	Chr.7: 71421097-71421097 on Build GRCh38
rs73363757	Chr.7: 71420877-71420877 on Build GRCh38
rs749428973	Chr.7: 71420966-71420966 on Build GRCh38
rs765278202	Chr.7: 71421045-71421045 on Build GRCh38
rs751565301	Chr.7: 71420943-71420943 on Build GRCh38
rs1056597341	Chr.7: 71420923-71420923 on Build GRCh38
rs752472906	Chr.7: 71421080-71421080 on Build GRCh38
rs372792355	Chr.7: 71421095-71421095 on Build GRCh38
rs112759984	Chr.7: 71421145-71421145 on Build GRCh38
rs777772965	Chr.7: 71420893-71420893 on Build GRCh38
rs771465510	Chr.7: 71420899-71420899 on Build GRCh38
rs769088187	Chr.7: 71421116-71421116 on Build GRCh38
rs866584899	Chr.7: 71421030-71421030 on Build GRCh38
rs754896515	Chr.7: 71420947-71420947 on Build GRCh38
rs866308070	Chr.7: 71421008-71421008 on Build GRCh38
rs866747641	Chr.7: 71420926-71420926 on Build GRCh38
rs780119747	Chr.7: 71420865-71420865 on Build GRCh38
rs397936866	Chr.7: 71420898-71420899 on Build GRCh38
rs765990737	Chr.7: 71421055-71421055 on Build GRCh38
rs576659383	Chr.7: 71421233-71421233 on Build GRCh38
rs1007058782	Chr.7: 71421234-71421234 on Build GRCh38
rs1030487275	Chr.7: 71421274-71421274 on Build GRCh38
rs199903990	Chr.7: 71421128-71421128 on Build GRCh38
rs948149446	Chr.7: 71421164-71421164 on Build GRCh38
rs765425954	Chr.7: 71421151-71421151 on Build GRCh38
rs532538143	Chr.7: 71421252-71421252 on Build GRCh38
rs775779137	Chr.7: 71421002-71421002 on Build GRCh38
rs200703759	Chr.7: 71421114-71421114 on Build GRCh38
rs142659982	Chr.7: 71421165-71421165 on Build GRCh38
rs11455717	Chr.7: 71420897-71420898 on Build GRCh38
rs759603442	Chr.7: 71421064-71421064 on Build GRCh38
rs973013551	Chr.7: 71421118-71421118 on Build GRCh38
rs772443852	Chr.7: 71420905-71420905 on Build GRCh38
rs376148000	Chr.7: 71421016-71421016 on Build GRCh38
rs759983467	Chr.7: 71420900-71420900 on Build GRCh38
rs749951505	Chr.7: 71420940-71420940 on Build GRCh38
rs553454349	Chr.7: 71421129-71421129 on Build GRCh38
rs78727355	Chr.7: 71420891-71420891 on Build GRCh38
rs772948920	Chr.7: 71421022-71421022 on Build GRCh38
rs771017589	Chr.7: 71420970-71420970 on Build GRCh38
rs972981881	Chr.7: 71421132-71421132 on Build GRCh38
rs138385323	Chr.7: 71420917-71420917 on Build GRCh38
rs191215830	Chr.7: 71420866-71420866 on Build GRCh38
rs904359007	Chr.7: 71421174-71421174 on Build GRCh38
rs764931976	Chr.7: 71420927-71420927 on Build GRCh38
rs891699101	Chr.7: 71421214-71421214 on Build GRCh38
rs142670632	Chr.7: 71420921-71420921 on Build GRCh38
rs868863031	Chr.7: 71421093-71421093 on Build GRCh38
rs869129433	Chr.7: 71421125-71421126 on Build GRCh38
rs776804275	Chr.7: 71421126-71421126 on Build GRCh38
rs756483138	Chr.7: 71421218-71421218 on Build GRCh38
rs759085286	Chr.7: 71421134-71421134 on Build GRCh38
rs778903809	Chr.7: 71420973-71420973 on Build GRCh38
rs758504621	Chr.7: 71421157-71421157 on Build GRCh38
rs200403024	Chr.7: 71420858-71420858 on Build GRCh38
rs555884344	Chr.7: 71421083-71421083 on Build GRCh38
rs200177349	Chr.7: 71421125-71421125 on Build GRCh38
rs760467373	Chr.7: 71421141-71421141 on Build GRCh38
rs1050734113	Chr.7: 71421221-71421221 on Build GRCh38
rs770049757	Chr.7: 71420892-71420892 on Build GRCh38
rs781199608	Chr.7: 71420948-71420948 on Build GRCh38
rs184060184	Chr.7: 71420949-71420949 on Build GRCh38
rs368686888	Chr.7: 71421136-71421136 on Build GRCh38
rs763951131	Chr.7: 71421143-71421143 on Build GRCh38
rs960967075	Chr.7: 71421284-71421284 on Build GRCh38
rs749363045	Chr.7: 71420897-71420897 on Build GRCh38
rs754100590	Chr.7: 71421089-71421089 on Build GRCh38
rs756339180	Chr.7: 71420959-71420959 on Build GRCh38
rs745937045	Chr.7: 71421112-71421112 on Build GRCh38
rs758955349	Chr.7: 71421113-71421113 on Build GRCh38
rs762495552	Chr.7: 71420942-71420942 on Build GRCh38
rs974898586	Chr.7: 71420928-71420928 on Build GRCh38
rs868631473	Chr.7: 71420957-71420957 on Build GRCh38
rs935848337	Chr.7: 71421176-71421176 on Build GRCh38
rs547880827	Chr.7: 71421263-71421263 on Build GRCh38
rs1025926158	Chr.7: 71421260-71421260 on Build GRCh38
rs61737661	Chr.7: 71421007-71421007 on Build GRCh38
rs766894940	Chr.7: 71421135-71421135 on Build GRCh38
rs750545617	Chr.7: 71421153-71421153 on Build GRCh38
rs202102121	Chr.7: 71420988-71420988 on Build GRCh38
rs778022057	Chr.7: 71420964-71420964 on Build GRCh38
rs397790672	Chr.7: 71421124-71421125 on Build GRCh38
rs199628058	Chr.7: 71421031-71421031 on Build GRCh38
rs746382123	Chr.7: 71420995-71420995 on Build GRCh38
rs755966198	Chr.7: 71421082-71421082 on Build GRCh38
rs201636538	Chr.7: 71421079-71421079 on Build GRCh38
rs910157454	Chr.7: 71420886-71420886 on Build GRCh38
rs985200950	Chr.7: 71421122-71421122 on Build GRCh38
rs992384558	Chr.7: 71421288-71421288 on Build GRCh38
rs368529766	Chr.7: 71420914-71420914 on Build GRCh38
rs1006191529	Chr.7: 71421201-71421201 on Build GRCh38
rs139549051	Chr.7: 71421062-71421062 on Build GRCh38
rs772568078	Chr.7: 71421000-71421000 on Build GRCh38
rs11981404	Chr.7: 71421236-71421236 on Build GRCh38
rs368231359	Chr.7: 71420860-71420860 on Build GRCh38
rs565089948	Chr.7: 71421237-71421237 on Build GRCh38
rs74524505	Chr.7: 71421200-71421200 on Build GRCh38

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