Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 71442159-71442623 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
233928 c.412+8C>A p.? Chr.11: 71442255-71442255 on Build GRCh38
467369 c.355C>G p.H119D Chr.11: 71442320-71442320 on Build GRCh38
3870134 c.393G>A p.E131E Chr.11: 71442282-71442282 on Build GRCh38
3670887 c.336G>T p.T112T Chr.11: 71442339-71442339 on Build GRCh38
6643244 c.370G>A p.G124S Chr.11: 71442305-71442305 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs751704854 Chr.11: 71442214-71442214 on Build GRCh38
rs371289412 Chr.11: 71442256-71442256 on Build GRCh38
rs1049384158 Chr.11: 71442591-71442591 on Build GRCh38
rs997702188 Chr.11: 71442200-71442200 on Build GRCh38
rs997753026 Chr.11: 71442513-71442513 on Build GRCh38
rs373261345 Chr.11: 71442394-71442394 on Build GRCh38
rs746482788 Chr.11: 71442258-71442290 on Build GRCh38
rs930941568 Chr.11: 71442588-71442588 on Build GRCh38
rs547282679 Chr.11: 71442597-71442597 on Build GRCh38
rs367804208 Chr.11: 71442234-71442234 on Build GRCh38
rs775407178 Chr.11: 71442342-71442342 on Build GRCh38
rs370073658 Chr.11: 71442592-71442592 on Build GRCh38
rs1019432925 Chr.11: 71442436-71442436 on Build GRCh38
rs769657777 Chr.11: 71442379-71442379 on Build GRCh38
rs993355180 Chr.11: 71442545-71442545 on Build GRCh38
rs780740417 Chr.11: 71442528-71442528 on Build GRCh38
rs1008415616 Chr.11: 71442414-71442414 on Build GRCh38
rs768679599 Chr.11: 71442239-71442239 on Build GRCh38
rs576806082 Chr.11: 71442190-71442190 on Build GRCh38
rs531190497 Chr.11: 71442426-71442426 on Build GRCh38
rs758846803 Chr.11: 71442496-71442496 on Build GRCh38
rs786200926 Chr.11: 71442260-71442260 on Build GRCh38
rs988719298 Chr.11: 71442242-71442242 on Build GRCh38
rs539734787 Chr.11: 71442576-71442576 on Build GRCh38
rs567247552 Chr.11: 71442500-71442500 on Build GRCh38
rs747827699 Chr.11: 71442320-71442320 on Build GRCh38
rs908033830 Chr.11: 71442555-71442555 on Build GRCh38
rs773997218 Chr.11: 71442246-71442246 on Build GRCh38
rs375015720 Chr.11: 71442212-71442212 on Build GRCh38
rs754560074 Chr.11: 71442268-71442275 on Build GRCh38
rs745315646 Chr.11: 71442228-71442228 on Build GRCh38
rs756945418 Chr.11: 71442216-71442216 on Build GRCh38
rs763333510 Chr.11: 71442278-71442278 on Build GRCh38
rs762472169 Chr.11: 71442378-71442378 on Build GRCh38
rs749178600 Chr.11: 71442238-71442238 on Build GRCh38
rs770040020 Chr.11: 71442340-71442340 on Build GRCh38
rs750857527 Chr.11: 71442381-71442381 on Build GRCh38
rs764443524 Chr.11: 71442351-71442351 on Build GRCh38
rs748064076 Chr.11: 71442398-71442398 on Build GRCh38
rs772940271 Chr.11: 71442267-71442267 on Build GRCh38
rs377334354 Chr.11: 71442395-71442395 on Build GRCh38
rs373799352 Chr.11: 71442582-71442582 on Build GRCh38
rs930971297 Chr.11: 71442411-71442411 on Build GRCh38
rs773047702 Chr.11: 71442333-71442333 on Build GRCh38
rs759750125 Chr.11: 71442339-71442339 on Build GRCh38
rs1048841919 Chr.11: 71442415-71442415 on Build GRCh38
rs373452254 Chr.11: 71442306-71442306 on Build GRCh38
rs769446826 Chr.11: 71442230-71442230 on Build GRCh38
rs779401555 Chr.11: 71442300-71442300 on Build GRCh38
rs1008073342 Chr.11: 71442219-71442219 on Build GRCh38
rs28938174 Chr.11: 71442319-71442319 on Build GRCh38
rs1039197150 Chr.11: 71442467-71442467 on Build GRCh38
rs981021248 Chr.11: 71442332-71442332 on Build GRCh38
rs764707624 Chr.11: 71442279-71442279 on Build GRCh38
rs751818759 Chr.11: 71442280-71442280 on Build GRCh38
rs367718693 Chr.11: 71442382-71442382 on Build GRCh38
rs121912195 Chr.11: 71442349-71442349 on Build GRCh38
rs920858576 Chr.11: 71442578-71442578 on Build GRCh38
rs563056315 Chr.11: 71442266-71442266 on Build GRCh38
rs201227366 Chr.11: 71442315-71442315 on Build GRCh38
rs968657350 Chr.11: 71442511-71442511 on Build GRCh38
rs373808237 Chr.11: 71442327-71442327 on Build GRCh38
rs750090808 Chr.11: 71442291-71442291 on Build GRCh38
rs138215017 Chr.11: 71442290-71442290 on Build GRCh38
rs542879175 Chr.11: 71442384-71442384 on Build GRCh38
rs980140083 Chr.11: 71442512-71442512 on Build GRCh38
rs891667774 Chr.11: 71442450-71442450 on Build GRCh38
rs776591142 Chr.11: 71442222-71442222 on Build GRCh38
rs781025347 Chr.11: 71442223-71442223 on Build GRCh38
rs147424205 Chr.11: 71442276-71442276 on Build GRCh38
rs776841323 Chr.11: 71442259-71442259 on Build GRCh38
rs763112867 Chr.11: 71442348-71442348 on Build GRCh38
rs1010108475 Chr.11: 71442483-71442483 on Build GRCh38
rs762060940 Chr.11: 71442189-71442189 on Build GRCh38
rs78415897 Chr.11: 71442515-71442515 on Build GRCh38
rs761692630 Chr.11: 71442252-71442252 on Build GRCh38
rs143587828 Chr.11: 71442299-71442299 on Build GRCh38
rs369003191 Chr.11: 71442380-71442380 on Build GRCh38
rs376821995 Chr.11: 71442377-71442377 on Build GRCh38
rs891834060 Chr.11: 71442521-71442521 on Build GRCh38
rs780955628 Chr.11: 71442301-71442316 on Build GRCh38
rs1028075042 Chr.11: 71442205-71442205 on Build GRCh38
rs201466849 Chr.11: 71442275-71442275 on Build GRCh38
rs754519174 Chr.11: 71442385-71442385 on Build GRCh38
rs757703242 Chr.11: 71442289-71442289 on Build GRCh38
rs79415457 Chr.11: 71442412-71442412 on Build GRCh38
rs940840491 Chr.11: 71442567-71442567 on Build GRCh38
rs771866134 Chr.11: 71442317-71442317 on Build GRCh38
rs748879289 Chr.11: 71442305-71442305 on Build GRCh38
rs11603330 Chr.11: 71442413-71442413 on Build GRCh38

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