Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 6431269-6431822 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
4615019 c.312_313insA p.R108fs*2 Chr.8: 6431577-6431578 on Build GRCh38
6181193 c.300A>T p.L100F Chr.8: 6431565-6431565 on Build GRCh38
751016 c.247G>T p.G83* Chr.8: 6431512-6431512 on Build GRCh38
1457773 c.273C>T p.F91F Chr.8: 6431538-6431538 on Build GRCh38
1457774 c.313delA p.K107fs*39 Chr.8: 6431578-6431578 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs370108436 Chr.8: 6431409-6431409 on Build GRCh38
rs749905038 Chr.8: 6431566-6431566 on Build GRCh38
rs765019060 Chr.8: 6431478-6431478 on Build GRCh38
rs770040130 Chr.8: 6431602-6431602 on Build GRCh38
rs764154562 Chr.8: 6431559-6431559 on Build GRCh38
rs538535546 Chr.8: 6431745-6431745 on Build GRCh38
rs184338643 Chr.8: 6431675-6431675 on Build GRCh38
rs776959425 Chr.8: 6431578-6431578 on Build GRCh38
rs1023089787 Chr.8: 6431369-6431369 on Build GRCh38
rs371519943 Chr.8: 6431630-6431630 on Build GRCh38
rs370624266 Chr.8: 6431509-6431509 on Build GRCh38
rs542328362 Chr.8: 6431297-6431297 on Build GRCh38
rs934599601 Chr.8: 6431714-6431714 on Build GRCh38
rs920147082 Chr.8: 6431398-6431398 on Build GRCh38
rs192919183 Chr.8: 6431633-6431633 on Build GRCh38
rs557448195 Chr.8: 6431681-6431682 on Build GRCh38
rs187466318 Chr.8: 6431550-6431550 on Build GRCh38
rs749994670 Chr.8: 6431627-6431627 on Build GRCh38
rs759764698 Chr.8: 6431544-6431544 on Build GRCh38
rs966242330 Chr.8: 6431705-6431705 on Build GRCh38
rs772674011 Chr.8: 6431529-6431529 on Build GRCh38
rs78909070 Chr.8: 6431801-6431801 on Build GRCh38
rs376596127 Chr.8: 6431472-6431472 on Build GRCh38
rs780183937 Chr.8: 6431637-6431637 on Build GRCh38
rs569496916 Chr.8: 6431713-6431713 on Build GRCh38
rs773570261 Chr.8: 6431531-6431531 on Build GRCh38
rs767523354 Chr.8: 6431626-6431626 on Build GRCh38
rs754963669 Chr.8: 6431798-6431798 on Build GRCh38
rs558995899 Chr.8: 6431327-6431327 on Build GRCh38
rs965533763 Chr.8: 6431639-6431639 on Build GRCh38
rs559566086 Chr.8: 6431302-6431302 on Build GRCh38
rs759663956 Chr.8: 6431577-6431578 on Build GRCh38
rs978782769 Chr.8: 6431682-6431682 on Build GRCh38
rs776622094 Chr.8: 6431542-6431542 on Build GRCh38
rs1042954569 Chr.8: 6431305-6431305 on Build GRCh38
rs775680072 Chr.8: 6431604-6431604 on Build GRCh38
rs374636201 Chr.8: 6431588-6431588 on Build GRCh38
rs921265982 Chr.8: 6431442-6431442 on Build GRCh38
rs952950196 Chr.8: 6431400-6431400 on Build GRCh38
rs727504012 Chr.8: 6431562-6431562 on Build GRCh38
rs750488483 Chr.8: 6431464-6431464 on Build GRCh38
rs777527988 Chr.8: 6431489-6431489 on Build GRCh38
rs771408991 Chr.8: 6431577-6431577 on Build GRCh38
rs373350816 Chr.8: 6431420-6431420 on Build GRCh38
rs914935999 Chr.8: 6431761-6431761 on Build GRCh38
rs879401632 Chr.8: 6431436-6431436 on Build GRCh38
rs900872841 Chr.8: 6431293-6431298 on Build GRCh38
rs1003490461 Chr.8: 6431397-6431397 on Build GRCh38
rs986249694 Chr.8: 6431690-6431690 on Build GRCh38
rs1014004618 Chr.8: 6431362-6431362 on Build GRCh38
rs976709180 Chr.8: 6431731-6431733 on Build GRCh38
rs760865588 Chr.8: 6431536-6431536 on Build GRCh38
rs977259629 Chr.8: 6431659-6431659 on Build GRCh38
rs754044979 Chr.8: 6431463-6431463 on Build GRCh38
rs758374507 Chr.8: 6431483-6431483 on Build GRCh38
rs998754348 Chr.8: 6431518-6431518 on Build GRCh38
rs77310992 Chr.8: 6431749-6431749 on Build GRCh38
rs182914515 Chr.8: 6431462-6431462 on Build GRCh38
rs374287463 Chr.8: 6431540-6431540 on Build GRCh38
rs550553198 Chr.8: 6431441-6431441 on Build GRCh38
rs762637006 Chr.8: 6431556-6431556 on Build GRCh38
rs769978600 Chr.8: 6431626-6431629 on Build GRCh38
rs1017786194 Chr.8: 6431697-6431697 on Build GRCh38
rs944153933 Chr.8: 6431434-6431434 on Build GRCh38
rs776711849 Chr.8: 6431585-6431585 on Build GRCh38
rs368962328 Chr.8: 6431381-6431381 on Build GRCh38
rs778408522 Chr.8: 6431571-6431571 on Build GRCh38
rs780968811 Chr.8: 6431505-6431505 on Build GRCh38
rs1010705398 Chr.8: 6431356-6431356 on Build GRCh38
rs908712558 Chr.8: 6431421-6431421 on Build GRCh38
rs539273179 Chr.8: 6431668-6431668 on Build GRCh38
rs2251956 Chr.8: 6431358-6431358 on Build GRCh38
rs2290145 Chr.8: 6431570-6431570 on Build GRCh38
rs573321717 Chr.8: 6431764-6431764 on Build GRCh38
rs998661177 Chr.8: 6431334-6431334 on Build GRCh38
rs763804334 Chr.8: 6431614-6431614 on Build GRCh38
rs751450037 Chr.8: 6431560-6431560 on Build GRCh38
rs769516261 Chr.8: 6431525-6431525 on Build GRCh38
rs565070103 Chr.8: 6431382-6431382 on Build GRCh38
rs552320866 Chr.8: 6431775-6431775 on Build GRCh38
rs924899569 Chr.8: 6431738-6431738 on Build GRCh38
rs980994013 Chr.8: 6431392-6431392 on Build GRCh38
rs773353540 Chr.8: 6431521-6431521 on Build GRCh38
rs997173961 Chr.8: 6431298-6431298 on Build GRCh38
rs772411618 Chr.8: 6431452-6431452 on Build GRCh38
rs949893238 Chr.8: 6431756-6431756 on Build GRCh38
rs761680766 Chr.8: 6431620-6431620 on Build GRCh38
rs952097000 Chr.8: 6431676-6431676 on Build GRCh38
rs893604512 Chr.8: 6431330-6431330 on Build GRCh38
rs368578018 Chr.8: 6431619-6431619 on Build GRCh38
rs904995116 Chr.8: 6431801-6431801 on Build GRCh38
rs755862917 Chr.8: 6431567-6431567 on Build GRCh38
rs752429100 Chr.8: 6431479-6431479 on Build GRCh38
rs765391012 Chr.8: 6431548-6431548 on Build GRCh38
rs1044831167 Chr.8: 6431800-6431800 on Build GRCh38
rs905633332 Chr.8: 6431768-6431768 on Build GRCh38
rs762876285 Chr.8: 6431608-6431608 on Build GRCh38
rs925942351 Chr.8: 6431698-6431698 on Build GRCh38
rs570158340 Chr.8: 6431747-6431747 on Build GRCh38
rs751132920 Chr.8: 6431493-6431493 on Build GRCh38
rs373010570 Chr.8: 6431456-6431456 on Build GRCh38
rs587783741 Chr.8: 6431543-6431543 on Build GRCh38
rs1003867123 Chr.8: 6431616-6431616 on Build GRCh38
rs904376348 Chr.8: 6431329-6431329 on Build GRCh38
rs753425845 Chr.8: 6431634-6431634 on Build GRCh38
rs756712806 Chr.8: 6431495-6431495 on Build GRCh38
rs1031496094 Chr.8: 6431351-6431351 on Build GRCh38
rs370719440 Chr.8: 6431576-6431576 on Build GRCh38
rs530772944 Chr.8: 6431440-6431440 on Build GRCh38

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