Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 71441334-71441595 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
DHCR7
Entrez Gene ID
1717
Gene Name
7-dehydrocholesterol reductase
Gene Aliases
SLOS
UniGene
Hs.503134
Gene Chromosome Location
Chr.11: 71434411-71448431 on Build GRCh38
Transcripts
NM_001163817.1 NM_001360.2 XM_011544777.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3359379 c.481A>G p.N161D Chr.11: 71441372-71441372 on Build GRCh38
53394 c.481A>C p.N161H Chr.11: 71441372-71441372 on Build GRCh38
3700142 c.481A>C p.N161H Chr.11: 71441372-71441372 on Build GRCh38
3452915 c.435C>T p.I145I Chr.11: 71441418-71441418 on Build GRCh38
1676274 c.439G>A p.G147S Chr.11: 71441414-71441414 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs372529016 Chr.11: 71441469-71441469 on Build GRCh38
rs752494910 Chr.11: 71441365-71441365 on Build GRCh38
rs935165835 Chr.11: 71441519-71441520 on Build GRCh38
rs1053168933 Chr.11: 71441494-71441494 on Build GRCh38
rs373567405 Chr.11: 71441492-71441492 on Build GRCh38
rs779417085 Chr.11: 71441393-71441393 on Build GRCh38
rs561330904 Chr.11: 71441558-71441558 on Build GRCh38
rs750628746 Chr.11: 71441370-71441370 on Build GRCh38
rs762754951 Chr.11: 71441452-71441452 on Build GRCh38
rs398123606 Chr.11: 71441368-71441368 on Build GRCh38
rs1011201889 Chr.11: 71441568-71441568 on Build GRCh38
rs777425801 Chr.11: 71441413-71441413 on Build GRCh38
rs759002405 Chr.11: 71441491-71441491 on Build GRCh38
rs1023141549 Chr.11: 71441526-71441526 on Build GRCh38
rs139713197 Chr.11: 71441483-71441483 on Build GRCh38
rs756416682 Chr.11: 71441378-71441378 on Build GRCh38
rs949177 Chr.11: 71441415-71441415 on Build GRCh38
rs1051516505 Chr.11: 71441490-71441490 on Build GRCh38
rs775575609 Chr.11: 71441442-71441442 on Build GRCh38
rs373908315 Chr.11: 71441435-71441435 on Build GRCh38
rs767716202 Chr.11: 71441369-71441369 on Build GRCh38
rs758693177 Chr.11: 71441411-71441411 on Build GRCh38
rs776334336 Chr.11: 71441353-71441353 on Build GRCh38
rs542565312 Chr.11: 71441470-71441470 on Build GRCh38
rs774978807 Chr.11: 71441363-71441363 on Build GRCh38
rs763788059 Chr.11: 71441453-71441453 on Build GRCh38
rs769816544 Chr.11: 71441438-71441438 on Build GRCh38
rs776246504 Chr.11: 71441422-71441422 on Build GRCh38
rs149164866 Chr.11: 71441382-71441382 on Build GRCh38
rs765663769 Chr.11: 71441482-71441482 on Build GRCh38
rs574541408 Chr.11: 71441520-71441520 on Build GRCh38
rs143312232 Chr.11: 71441392-71441392 on Build GRCh38
rs893733062 Chr.11: 71441554-71441554 on Build GRCh38
rs759538408 Chr.11: 71441361-71441361 on Build GRCh38
rs1052338283 Chr.11: 71441524-71441524 on Build GRCh38
rs755078888 Chr.11: 71441471-71441471 on Build GRCh38
rs774270110 Chr.11: 71441462-71441462 on Build GRCh38
rs11555217 Chr.11: 71441401-71441401 on Build GRCh38
rs941214871 Chr.11: 71441418-71441418 on Build GRCh38
rs1011706111 Chr.11: 71441523-71441523 on Build GRCh38
rs369341085 Chr.11: 71441487-71441487 on Build GRCh38
rs766443353 Chr.11: 71441379-71441379 on Build GRCh38
rs104894213 Chr.11: 71441400-71441400 on Build GRCh38
rs1057517307 Chr.11: 71441441-71441441 on Build GRCh38
rs556365885 Chr.11: 71441515-71441515 on Build GRCh38
rs753960624 Chr.11: 71441383-71441383 on Build GRCh38

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