Product Details

Primer Sequences

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Primer Chromosome Location

Chr.3: 52402173-52402436 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

BAP1

Entrez Gene ID

8314

Gene Name

BRCA1 associated protein 1

Gene Aliases

HUCEP-13, UCHL2, hucep-6

UniGene

Hs.106674

Gene Chromosome Location

Chr.3: 52401004-52410105 on Build GRCh38

Transcripts

NM_004656.3 XM_011534149.2 XM_011534150.2 XM_011534151.2 XM_011534152.1 XM_017007303.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6023806	c.2085_2085delC	p.N695fs*36	Chr.3: 52402393-52402393 on Build GRCh38
7335243	c.2185C>T	p.Q729*	Chr.3: 52402293-52402293 on Build GRCh38
6023801	c.2106_2107insA	p.G703fs*14	Chr.3: 52402371-52402372 on Build GRCh38
3781660	c.2057-5C>G	p.?	Chr.3: 52402426-52402426 on Build GRCh38
6939917	c.2167_2174delCCCTACAA	p.P723fs*>5	Chr.3: 52402304-52402311 on Build GRCh38
6951561	c.2057-33_2098del75	p.?	Chr.3: 52402380-52402454 on Build GRCh38
6982944	c.2152C>T	p.R718W	Chr.3: 52402326-52402326 on Build GRCh38
6961012	c.2102_2115del14	p.R701fs*11	Chr.3: 52402363-52402376 on Build GRCh38
6982103	c.2183G>A	p.R728H	Chr.3: 52402295-52402295 on Build GRCh38
422744	c.2188T>G	p.*730G	Chr.3: 52402290-52402290 on Build GRCh38
1732085	c.2073delA	p.V692fs*>38	Chr.3: 52402405-52402405 on Build GRCh38
51984	c.2188T>A	p.*730?	Chr.3: 52402290-52402290 on Build GRCh38
3358464	c.2149delC	p.R717fs*>13	Chr.3: 52402329-52402329 on Build GRCh38
6975473	c.2150G>A	p.R717Q	Chr.3: 52402328-52402328 on Build GRCh38
6963120	c.2071_2074delCTAG	p.L691fs*>38	Chr.3: 52402404-52402407 on Build GRCh38
1659757	c.2072delT	p.L691fs*>39	Chr.3: 52402406-52402406 on Build GRCh38
6984182	c.2154delG	p.K719fs*>11	Chr.3: 52402324-52402324 on Build GRCh38
1732149	c.2110delG	p.V704fs*>26	Chr.3: 52402368-52402368 on Build GRCh38
1716580	c.2057G>A	p.G686D	Chr.3: 52402421-52402421 on Build GRCh38
51992	c.2080_2105del26	p.Q694fs*14	Chr.3: 52402373-52402398 on Build GRCh38
6966297	c.2189G>T	p.*730L	Chr.3: 52402289-52402289 on Build GRCh38
249471	c.2077G>T	p.E693*	Chr.3: 52402401-52402401 on Build GRCh38
5095522	c.2071C>G	p.L691V	Chr.3: 52402407-52402407 on Build GRCh38
6907418	c.2152C>G	p.R718G	Chr.3: 52402326-52402326 on Build GRCh38
6945226	c.2189G>C	p.*730S	Chr.3: 52402289-52402289 on Build GRCh38
5702522	c.2079_2080insG	p.Q694fs*23	Chr.3: 52402398-52402399 on Build GRCh38
7254111	c.2057-2A>C	p.?	Chr.3: 52402423-52402423 on Build GRCh38
1169481	c.2101C>T	p.R701C	Chr.3: 52402377-52402377 on Build GRCh38
3358466	c.2097delG	p.R700fs*>30	Chr.3: 52402381-52402381 on Build GRCh38
6954751	c.2082delG	p.N695fs*>35	Chr.3: 52402396-52402396 on Build GRCh38
1566693	c.2149C>T	p.R717W	Chr.3: 52402329-52402329 on Build GRCh38
96371	c.2057-4G>T	p.?	Chr.3: 52402425-52402425 on Build GRCh38
1169642	c.2110_2111insG	p.V704fs*13	Chr.3: 52402367-52402368 on Build GRCh38
7332103	c.2189G>A	p.*730*	Chr.3: 52402289-52402289 on Build GRCh38
110724	c.2090C>G	p.S697C	Chr.3: 52402388-52402388 on Build GRCh38
7335250	c.2146G>A	p.D716N	Chr.3: 52402332-52402332 on Build GRCh38
422743	c.2134C>T	p.Q712*	Chr.3: 52402344-52402344 on Build GRCh38
1617861	c.2137C>T	p.R713W	Chr.3: 52402341-52402341 on Build GRCh38
3358465	c.2132delA	p.K711fs*>19	Chr.3: 52402346-52402346 on Build GRCh38
5803335	c.2082G>C	p.Q694H	Chr.3: 52402396-52402396 on Build GRCh38
6913085	c.2077delG	p.E693fs*>37	Chr.3: 52402401-52402401 on Build GRCh38
7253669	c.2122_2125delCGGC	p.R708fs*>21	Chr.3: 52402353-52402356 on Build GRCh38
6983648	c.2089delT	p.S697fs*>33	Chr.3: 52402389-52402389 on Build GRCh38
6918449	c.2080C>T	p.Q694*	Chr.3: 52402398-52402398 on Build GRCh38
110805	c.2095_2096delCG	p.R699fs*17	Chr.3: 52402382-52402383 on Build GRCh38
7410593	c.2084A>T	p.N695I	Chr.3: 52402394-52402394 on Build GRCh38
6930671	c.2087T>C	p.I696T	Chr.3: 52402391-52402391 on Build GRCh38
1046985	c.2099G>A	p.R700Q	Chr.3: 52402379-52402379 on Build GRCh38
3736953	c.2057-2delA	p.?	Chr.3: 52402423-52402423 on Build GRCh38
6954953	c.2095C>T	p.R699W	Chr.3: 52402383-52402383 on Build GRCh38
6943971	c.2180A>T	p.K727M	Chr.3: 52402298-52402298 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs926178223	Chr.3: 52402231-52402231 on Build GRCh38
rs201122466	Chr.3: 52402360-52402360 on Build GRCh38
rs748962519	Chr.3: 52402262-52402262 on Build GRCh38
rs139307137	Chr.3: 52402251-52402251 on Build GRCh38
rs773230722	Chr.3: 52402295-52402295 on Build GRCh38
rs757553269	Chr.3: 52402417-52402417 on Build GRCh38
rs764618711	Chr.3: 52402241-52402241 on Build GRCh38
rs375252451	Chr.3: 52402252-52402252 on Build GRCh38
rs747712653	Chr.3: 52402402-52402402 on Build GRCh38
rs56898787	Chr.3: 52402243-52402243 on Build GRCh38
rs778397771	Chr.3: 52402269-52402269 on Build GRCh38
rs757780962	Chr.3: 52402375-52402375 on Build GRCh38
rs550500585	Chr.3: 52402399-52402399 on Build GRCh38
rs760537008	Chr.3: 52402303-52402303 on Build GRCh38
rs771713346	Chr.3: 52402289-52402289 on Build GRCh38
rs776746400	Chr.3: 52402319-52402319 on Build GRCh38
rs748022925	Chr.3: 52402285-52402285 on Build GRCh38
rs753438711	Chr.3: 52402386-52402386 on Build GRCh38
rs752843061	Chr.3: 52402330-52402330 on Build GRCh38
rs1025761013	Chr.3: 52402215-52402215 on Build GRCh38
rs759611495	Chr.3: 52402320-52402320 on Build GRCh38
rs771007826	Chr.3: 52402314-52402314 on Build GRCh38
rs372987719	Chr.3: 52402383-52402383 on Build GRCh38
rs763400204	Chr.3: 52402357-52402357 on Build GRCh38
rs778647638	Chr.3: 52402390-52402390 on Build GRCh38
rs754513396	Chr.3: 52402387-52402387 on Build GRCh38
rs768488999	Chr.3: 52402264-52402264 on Build GRCh38
rs779640381	Chr.3: 52402256-52402256 on Build GRCh38
rs765539314	Chr.3: 52402328-52402328 on Build GRCh38
rs771901936	Chr.3: 52402412-52402412 on Build GRCh38
rs564062251	Chr.3: 52402228-52402228 on Build GRCh38

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