Product Details

Primer Sequences
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Primer Chromosome Location
Chr.13: 97391255-97391506 on Build GRCh38
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

Cosmic ID Mutation AA Transcript Location
1163045 c.1003T>A p.S335T Chr.13: 97391366-97391366 on Build GRCh38
5007815 c.1010T>A p.L337* Chr.13: 97391373-97391373 on Build GRCh38
6709145 c.976A>G p.S326G Chr.13: 97391339-97391339 on Build GRCh38
223655 c.1055C>T p.S352F Chr.13: 97391418-97391418 on Build GRCh38
1368123 c.1040A>G p.Y347C Chr.13: 97391403-97391403 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs749641314 Chr.13: 97391416-97391416 on Build GRCh38
rs772189751 Chr.13: 97391464-97391464 on Build GRCh38
rs774601646 Chr.13: 97391443-97391443 on Build GRCh38
rs750533362 Chr.13: 97391347-97391347 on Build GRCh38
rs759684471 Chr.13: 97391358-97391358 on Build GRCh38
rs369342078 Chr.13: 97391348-97391348 on Build GRCh38
rs763473144 Chr.13: 97391303-97391303 on Build GRCh38
rs769118675 Chr.13: 97391418-97391418 on Build GRCh38
rs761780799 Chr.13: 97391333-97391333 on Build GRCh38
rs921542571 Chr.13: 97391308-97391308 on Build GRCh38
rs753624067 Chr.13: 97391397-97391397 on Build GRCh38
rs766318655 Chr.13: 97391353-97391353 on Build GRCh38
rs760809287 Chr.13: 97391479-97391479 on Build GRCh38
rs746528237 Chr.13: 97391406-97391406 on Build GRCh38
rs372069584 Chr.13: 97391286-97391286 on Build GRCh38
rs147322113 Chr.13: 97391305-97391305 on Build GRCh38
rs775936997 Chr.13: 97391302-97391302 on Build GRCh38
rs558877345 Chr.13: 97391452-97391452 on Build GRCh38
rs758014428 Chr.13: 97391405-97391405 on Build GRCh38
rs7986459 Chr.13: 97391288-97391288 on Build GRCh38
rs751981111 Chr.13: 97391476-97391476 on Build GRCh38
rs770408146 Chr.13: 97391407-97391407 on Build GRCh38
rs774678602 Chr.13: 97391311-97391311 on Build GRCh38
rs545433871 Chr.13: 97391398-97391398 on Build GRCh38
rs778407813 Chr.13: 97391399-97391399 on Build GRCh38
rs925169470 Chr.13: 97391361-97391361 on Build GRCh38
rs754491730 Chr.13: 97391445-97391445 on Build GRCh38
rs766019490 Chr.13: 97391308-97391308 on Build GRCh38
rs774690645 Chr.13: 97391289-97391289 on Build GRCh38
rs762710130 Chr.13: 97391293-97391293 on Build GRCh38
rs747787123 Chr.13: 97391401-97391401 on Build GRCh38
rs773221009 Chr.13: 97391473-97391473 on Build GRCh38
rs780776006 Chr.13: 97391410-97391410 on Build GRCh38
rs113877200 Chr.13: 97391475-97391475 on Build GRCh38
rs767585497 Chr.13: 97391342-97391342 on Build GRCh38

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