Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 6435969-6436242 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
MCPH1
Entrez Gene ID
79648
Gene Name
microcephalin 1
Gene Aliases
BRIT1, MCT
UniGene
Hs.593807
Gene Chromosome Location
Chr.8: 6406592-6648505 on Build GRCh38
Transcripts
NM_001172574.1 NM_001172575.1 NM_001322042.1 NM_001322043.1 NM_001322045.1 NM_024596.4 NR_136159.1 XM_011534755.2 XM_011534756.2 XM_011534757.2 XM_011534758.2 XM_011534759.2 XM_011534760.2 XM_017013829.1 XM_017013830.1 XM_017013831.1 XM_017013832.1 XM_017013833.1 XM_017013834.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6479574 c.414A>G p.L138L Chr.8: 6436140-6436140 on Build GRCh38
6392437 c.415C>A p.Q139K Chr.8: 6436141-6436141 on Build GRCh38
6392438 c.421C>A p.Q141K Chr.8: 6436147-6436147 on Build GRCh38
7284587 c.421_422insA p.T143fs*5 Chr.8: 6436147-6436148 on Build GRCh38
4491598 c.382C>T p.Q128* Chr.8: 6436108-6436108 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs757592301 Chr.8: 6436085-6436085 on Build GRCh38
rs531760334 Chr.8: 6436097-6436097 on Build GRCh38
rs781752268 Chr.8: 6436088-6436088 on Build GRCh38
rs752393826 Chr.8: 6436145-6436145 on Build GRCh38
rs761639209 Chr.8: 6436049-6436049 on Build GRCh38
rs866259329 Chr.8: 6436060-6436060 on Build GRCh38
rs774807799 Chr.8: 6436210-6436210 on Build GRCh38
rs1045701361 Chr.8: 6436205-6436205 on Build GRCh38
rs529681578 Chr.8: 6436193-6436193 on Build GRCh38
rs776034545 Chr.8: 6436132-6436132 on Build GRCh38
rs780022348 Chr.8: 6436101-6436101 on Build GRCh38
rs753914215 Chr.8: 6436172-6436172 on Build GRCh38
rs776606558 Chr.8: 6436198-6436198 on Build GRCh38
rs377092975 Chr.8: 6436082-6436082 on Build GRCh38
rs868609512 Chr.8: 6436178-6436178 on Build GRCh38
rs779174052 Chr.8: 6436106-6436106 on Build GRCh38
rs200561926 Chr.8: 6436208-6436208 on Build GRCh38
rs779070188 Chr.8: 6436179-6436179 on Build GRCh38
rs891865529 Chr.8: 6436158-6436158 on Build GRCh38
rs764901131 Chr.8: 6436081-6436081 on Build GRCh38
rs961681522 Chr.8: 6436013-6436013 on Build GRCh38
rs187364318 Chr.8: 6436021-6436021 on Build GRCh38
rs753330091 Chr.8: 6436069-6436069 on Build GRCh38
rs762530502 Chr.8: 6436149-6436149 on Build GRCh38
rs780580898 Chr.8: 6436167-6436167 on Build GRCh38
rs768875756 Chr.8: 6436042-6436042 on Build GRCh38
rs772360331 Chr.8: 6436183-6436183 on Build GRCh38
rs772186443 Chr.8: 6436054-6436054 on Build GRCh38
rs907544215 Chr.8: 6436012-6436012 on Build GRCh38
rs557923447 Chr.8: 6436018-6436018 on Build GRCh38
rs777731410 Chr.8: 6436184-6436184 on Build GRCh38
rs540301493 Chr.8: 6436188-6436188 on Build GRCh38
rs201721894 Chr.8: 6436047-6436047 on Build GRCh38
rs762619649 Chr.8: 6436212-6436212 on Build GRCh38
rs778010370 Chr.8: 6435997-6435997 on Build GRCh38
rs199422125 Chr.8: 6436153-6436154 on Build GRCh38
rs748013870 Chr.8: 6436119-6436119 on Build GRCh38
rs768800693 Chr.8: 6436105-6436105 on Build GRCh38
rs775640880 Chr.8: 6436071-6436071 on Build GRCh38
rs1050386080 Chr.8: 6436064-6436064 on Build GRCh38
rs147245957 Chr.8: 6436031-6436031 on Build GRCh38
rs911352678 Chr.8: 6436074-6436074 on Build GRCh38
rs761852897 Chr.8: 6436213-6436213 on Build GRCh38
rs750937838 Chr.8: 6436090-6436090 on Build GRCh38
rs767885170 Chr.8: 6436150-6436150 on Build GRCh38
rs760700224 Chr.8: 6436130-6436130 on Build GRCh38
rs368136293 Chr.8: 6436055-6436055 on Build GRCh38
rs759688817 Chr.8: 6436192-6436192 on Build GRCh38
rs747346870 Chr.8: 6436004-6436004 on Build GRCh38
rs371941778 Chr.8: 6436066-6436066 on Build GRCh38
rs749349051 Chr.8: 6436104-6436104 on Build GRCh38
rs17852815 Chr.8: 6436068-6436068 on Build GRCh38
rs764843304 Chr.8: 6436140-6436140 on Build GRCh38
rs760327858 Chr.8: 6436062-6436062 on Build GRCh38
rs201603117 Chr.8: 6436177-6436177 on Build GRCh38
rs139607465 Chr.8: 6436159-6436159 on Build GRCh38
rs748386033 Chr.8: 6436182-6436182 on Build GRCh38
rs759051624 Chr.8: 6436135-6436135 on Build GRCh38
rs773072616 Chr.8: 6436124-6436124 on Build GRCh38
rs757788497 Chr.8: 6436019-6436019 on Build GRCh38
rs562954265 Chr.8: 6436070-6436070 on Build GRCh38
rs771988181 Chr.8: 6436120-6436120 on Build GRCh38
rs749488341 Chr.8: 6436033-6436033 on Build GRCh38

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