Product Details

Primer Sequences

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Primer Chromosome Location

Chr.13: 97275871-97276408 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

MBNL2

Entrez Gene ID

10150

Gene Name

muscleblind like splicing regulator 2

Gene Aliases

MBLL, MBLL39, PRO2032

UniGene

Hs.657347

Gene Chromosome Location

Chr.13: 97141780-97394120 on Build GRCh38

Transcripts

NM_001306070.1 NM_144778.3 NM_207304.2 XM_005254018.2 XM_005254019.2 XM_005254021.2 XM_005254022.2 XM_006719912.2 XM_011521045.2 XM_017020308.1 XM_017020309.1 XM_017020310.1 XM_017020311.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6306720	c.136G>T	p.E46*	Chr.13: 97276371-97276371 on Build GRCh38
432640	c.95A>C	p.E32A	Chr.13: 97276330-97276330 on Build GRCh38
6306719	c.136G>T	p.E46*	Chr.13: 97276371-97276371 on Build GRCh38
6709149	c.86G>A	p.R29H	Chr.13: 97276321-97276321 on Build GRCh38
4701002	c.87C>T	p.R29R	Chr.13: 97276322-97276322 on Build GRCh38
6709148	c.86G>A	p.R29H	Chr.13: 97276321-97276321 on Build GRCh38
1951915	c.31A>G	p.T11A	Chr.13: 97276266-97276266 on Build GRCh38
4701001	c.87C>T	p.R29R	Chr.13: 97276322-97276322 on Build GRCh38
432641	c.95A>C	p.E32A	Chr.13: 97276330-97276330 on Build GRCh38
7078682	c.97G>C	p.E33Q	Chr.13: 97276332-97276332 on Build GRCh38
5376977	c.151A>C	p.I51L	Chr.13: 97276386-97276386 on Build GRCh38
7078681	c.97G>C	p.E33Q	Chr.13: 97276332-97276332 on Build GRCh38
5376976	c.151A>C	p.I51L	Chr.13: 97276386-97276386 on Build GRCh38
1951916	c.31A>G	p.T11A	Chr.13: 97276266-97276266 on Build GRCh38
949064	c.100T>A	p.C34S	Chr.13: 97276335-97276335 on Build GRCh38
5842800	c.115delC	p.S42fs*9	Chr.13: 97276350-97276350 on Build GRCh38
949063	c.100T>A	p.C34S	Chr.13: 97276335-97276335 on Build GRCh38
5627618	c.48A>G	p.L16L	Chr.13: 97276283-97276283 on Build GRCh38
5842799	c.115delC	p.S42fs*9	Chr.13: 97276350-97276350 on Build GRCh38
949062	c.28G>T	p.D10Y	Chr.13: 97276263-97276263 on Build GRCh38
949061	c.28G>T	p.D10Y	Chr.13: 97276263-97276263 on Build GRCh38
5563459	c.67C>G	p.Q23E	Chr.13: 97276302-97276302 on Build GRCh38
7290946	c.86G>T	p.R29L	Chr.13: 97276321-97276321 on Build GRCh38
5563458	c.67C>G	p.Q23E	Chr.13: 97276302-97276302 on Build GRCh38
7290945	c.86G>T	p.R29L	Chr.13: 97276321-97276321 on Build GRCh38
5627617	c.48A>G	p.L16L	Chr.13: 97276283-97276283 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs36010428	Chr.13: 97276361-97276361 on Build GRCh38
rs775745316	Chr.13: 97276232-97276232 on Build GRCh38
rs778441022	Chr.13: 97276333-97276333 on Build GRCh38
rs955746548	Chr.13: 97276320-97276320 on Build GRCh38
rs925657885	Chr.13: 97275936-97275936 on Build GRCh38
rs201084754	Chr.13: 97276368-97276368 on Build GRCh38
rs1000906044	Chr.13: 97275973-97275973 on Build GRCh38
rs768820298	Chr.13: 97276248-97276248 on Build GRCh38
rs969023672	Chr.13: 97275957-97275957 on Build GRCh38
rs926955948	Chr.13: 97276060-97276060 on Build GRCh38
rs1018165191	Chr.13: 97276353-97276353 on Build GRCh38
rs746232646	Chr.13: 97276225-97276225 on Build GRCh38
rs373812610	Chr.13: 97276385-97276385 on Build GRCh38
rs377260726	Chr.13: 97276185-97276185 on Build GRCh38
rs923320829	Chr.13: 97275997-97275997 on Build GRCh38
rs533230832	Chr.13: 97276049-97276049 on Build GRCh38
rs141173117	Chr.13: 97276292-97276292 on Build GRCh38
rs774132167	Chr.13: 97276253-97276253 on Build GRCh38
rs1032764118	Chr.13: 97275974-97275974 on Build GRCh38
rs999824577	Chr.13: 97276249-97276249 on Build GRCh38
rs908157528	Chr.13: 97276017-97276017 on Build GRCh38
rs926666874	Chr.13: 97275980-97275980 on Build GRCh38
rs766126526	Chr.13: 97276280-97276280 on Build GRCh38
rs780215815	Chr.13: 97276366-97276366 on Build GRCh38
rs139684062	Chr.13: 97276257-97276257 on Build GRCh38
rs936985198	Chr.13: 97276082-97276082 on Build GRCh38
rs763367930	Chr.13: 97276054-97276054 on Build GRCh38
rs773382768	Chr.13: 97276039-97276039 on Build GRCh38
rs769975742	Chr.13: 97276025-97276025 on Build GRCh38
rs373511683	Chr.13: 97276187-97276187 on Build GRCh38
rs763012634	Chr.13: 97276247-97276247 on Build GRCh38
rs115576896	Chr.13: 97275977-97275977 on Build GRCh38
rs768580262	Chr.13: 97275947-97275947 on Build GRCh38
rs781670889	Chr.13: 97276354-97276354 on Build GRCh38
rs768781962	Chr.13: 97276383-97276383 on Build GRCh38
rs770208186	Chr.13: 97276364-97276364 on Build GRCh38
rs757720444	Chr.13: 97276346-97276346 on Build GRCh38
rs958196180	Chr.13: 97275953-97275953 on Build GRCh38
rs954885873	Chr.13: 97276006-97276006 on Build GRCh38
rs549833491	Chr.13: 97276175-97276175 on Build GRCh38
rs766968214	Chr.13: 97276139-97276139 on Build GRCh38
rs767385632	Chr.13: 97276256-97276256 on Build GRCh38
rs752021459	Chr.13: 97276157-97276157 on Build GRCh38
rs1048464159	Chr.13: 97276016-97276016 on Build GRCh38
rs377056466	Chr.13: 97276197-97276197 on Build GRCh38
rs41279106	Chr.13: 97276011-97276011 on Build GRCh38
rs777018340	Chr.13: 97276214-97276214 on Build GRCh38
rs769941940	Chr.13: 97276229-97276229 on Build GRCh38
rs754426281	Chr.13: 97276298-97276298 on Build GRCh38
rs761760187	Chr.13: 97276254-97276254 on Build GRCh38
rs188817032	Chr.13: 97276209-97276209 on Build GRCh38
rs1028234687	Chr.13: 97276108-97276108 on Build GRCh38
rs11544959	Chr.13: 97275948-97275948 on Build GRCh38
rs752183016	Chr.13: 97276339-97276339 on Build GRCh38
rs565743334	Chr.13: 97275978-97275978 on Build GRCh38

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