Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 71438758-71439301 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
6643239 c.746C>T p.T249I Chr.11: 71438964-71438964 on Build GRCh38
2044504 c.725G>A p.R242H Chr.11: 71438985-71438985 on Build GRCh38
5661074 c.805G>A p.A269T Chr.11: 71438905-71438905 on Build GRCh38
310553 c.805G>A p.A269T Chr.11: 71438905-71438905 on Build GRCh38
6537436 c.684G>C p.R228R Chr.11: 71439026-71439026 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1029024215 Chr.11: 71439240-71439240 on Build GRCh38
rs761978602 Chr.11: 71438894-71438894 on Build GRCh38
rs771880829 Chr.11: 71438868-71438868 on Build GRCh38
rs757676973 Chr.11: 71438838-71438838 on Build GRCh38
rs561610451 Chr.11: 71438821-71438821 on Build GRCh38
rs544038702 Chr.11: 71438808-71438808 on Build GRCh38
rs976105626 Chr.11: 71439076-71439076 on Build GRCh38
rs747133004 Chr.11: 71439022-71439022 on Build GRCh38
rs774666247 Chr.11: 71438954-71438954 on Build GRCh38
rs761064004 Chr.11: 71438907-71438907 on Build GRCh38
rs763006749 Chr.11: 71439198-71439198 on Build GRCh38
rs760506702 Chr.11: 71439203-71439203 on Build GRCh38
rs749076525 Chr.11: 71439059-71439059 on Build GRCh38
rs1042442188 Chr.11: 71438916-71438916 on Build GRCh38
rs767872725 Chr.11: 71438896-71438896 on Build GRCh38
rs201556114 Chr.11: 71439027-71439027 on Build GRCh38
rs532745111 Chr.11: 71439226-71439226 on Build GRCh38
rs746371113 Chr.11: 71439116-71439116 on Build GRCh38
rs775773057 Chr.11: 71439028-71439028 on Build GRCh38
rs80338856 Chr.11: 71438986-71438986 on Build GRCh38
rs761732160 Chr.11: 71438959-71438959 on Build GRCh38
rs267603172 Chr.11: 71439023-71439023 on Build GRCh38
rs200132007 Chr.11: 71438945-71438945 on Build GRCh38
rs150290316 Chr.11: 71439154-71439154 on Build GRCh38
rs104894212 Chr.11: 71438966-71438966 on Build GRCh38
rs772491341 Chr.11: 71439018-71439018 on Build GRCh38
rs1026381682 Chr.11: 71439199-71439199 on Build GRCh38
rs746128609 Chr.11: 71439178-71439178 on Build GRCh38
rs373121544 Chr.11: 71439040-71439040 on Build GRCh38
rs28364773 Chr.11: 71439144-71439144 on Build GRCh38
rs12800 Chr.11: 71438975-71438975 on Build GRCh38
rs777617141 Chr.11: 71438932-71438932 on Build GRCh38
rs113950278 Chr.11: 71438948-71438948 on Build GRCh38
rs767031102 Chr.11: 71438971-71438971 on Build GRCh38
rs1009986040 Chr.11: 71438903-71438903 on Build GRCh38
rs572651643 Chr.11: 71438795-71438795 on Build GRCh38
rs748390752 Chr.11: 71439016-71439016 on Build GRCh38
rs779896782 Chr.11: 71439055-71439055 on Build GRCh38
rs778945317 Chr.11: 71439005-71439005 on Build GRCh38
rs757697462 Chr.11: 71438885-71438890 on Build GRCh38
rs772639348 Chr.11: 71438944-71438944 on Build GRCh38
rs80338857 Chr.11: 71438985-71438985 on Build GRCh38
rs777248132 Chr.11: 71438982-71438982 on Build GRCh38
rs180752981 Chr.11: 71439181-71439181 on Build GRCh38
rs777707316 Chr.11: 71438874-71438874 on Build GRCh38
rs968616127 Chr.11: 71438806-71438806 on Build GRCh38
rs137910211 Chr.11: 71439221-71439221 on Build GRCh38
rs895314540 Chr.11: 71439155-71439155 on Build GRCh38
rs751732228 Chr.11: 71438835-71438835 on Build GRCh38
rs764070882 Chr.11: 71438831-71438831 on Build GRCh38
rs1023993186 Chr.11: 71439202-71439202 on Build GRCh38
rs564709749 Chr.11: 71438809-71438809 on Build GRCh38
rs770713196 Chr.11: 71438882-71438882 on Build GRCh38
rs1792264 Chr.11: 71439201-71439201 on Build GRCh38
rs1057516783 Chr.11: 71438906-71438906 on Build GRCh38
rs748962676 Chr.11: 71438847-71438847 on Build GRCh38
rs371478322 Chr.11: 71439191-71439191 on Build GRCh38
rs139787408 Chr.11: 71438888-71438888 on Build GRCh38
rs774275482 Chr.11: 71438889-71438889 on Build GRCh38
rs551260416 Chr.11: 71438931-71438931 on Build GRCh38
rs776941576 Chr.11: 71439115-71439115 on Build GRCh38
rs1792265 Chr.11: 71438810-71438810 on Build GRCh38
rs763787299 Chr.11: 71439044-71439044 on Build GRCh38
rs923190893 Chr.11: 71439232-71439232 on Build GRCh38
rs925351705 Chr.11: 71439275-71439275 on Build GRCh38
rs536834609 Chr.11: 71438972-71438972 on Build GRCh38
rs752096930 Chr.11: 71438929-71438929 on Build GRCh38
rs756795175 Chr.11: 71439049-71439049 on Build GRCh38
rs773393807 Chr.11: 71439020-71439020 on Build GRCh38
rs372267559 Chr.11: 71439270-71439270 on Build GRCh38
rs185433615 Chr.11: 71439225-71439225 on Build GRCh38
rs955666825 Chr.11: 71439249-71439249 on Build GRCh38
rs886041354 Chr.11: 71438970-71438970 on Build GRCh38
rs111574000 Chr.11: 71439085-71439085 on Build GRCh38
rs2852854 Chr.11: 71438870-71438870 on Build GRCh38
rs531162546 Chr.11: 71438798-71438798 on Build GRCh38
rs773485715 Chr.11: 71438969-71438969 on Build GRCh38
rs769583377 Chr.11: 71439072-71439072 on Build GRCh38
rs1790325 Chr.11: 71439250-71439250 on Build GRCh38
rs1024504511 Chr.11: 71438999-71438999 on Build GRCh38
rs778163632 Chr.11: 71439107-71439107 on Build GRCh38
rs943223142 Chr.11: 71439048-71439048 on Build GRCh38
rs145284180 Chr.11: 71438981-71438981 on Build GRCh38
rs1017368913 Chr.11: 71439220-71439220 on Build GRCh38
rs2852853 Chr.11: 71439171-71439171 on Build GRCh38
rs200160227 Chr.11: 71439220-71439221 on Build GRCh38
rs755941916 Chr.11: 71439001-71439001 on Build GRCh38
rs369654651 Chr.11: 71438987-71438987 on Build GRCh38
rs775628929 Chr.11: 71438887-71438887 on Build GRCh38
rs772294537 Chr.11: 71438962-71438962 on Build GRCh38
rs1057517210 Chr.11: 71439084-71439084 on Build GRCh38
rs200232012 Chr.11: 71438939-71438939 on Build GRCh38
rs1057516920 Chr.11: 71438877-71438877 on Build GRCh38
rs544044213 Chr.11: 71439180-71439180 on Build GRCh38
rs751026224 Chr.11: 71439045-71439045 on Build GRCh38
rs895240906 Chr.11: 71439269-71439269 on Build GRCh38
rs559264290 Chr.11: 71438849-71438849 on Build GRCh38
rs1010024423 Chr.11: 71438797-71438797 on Build GRCh38
rs548906584 Chr.11: 71439264-71439264 on Build GRCh38
rs533099792 Chr.11: 71438850-71438850 on Build GRCh38
rs148609143 Chr.11: 71438991-71438991 on Build GRCh38
rs746764157 Chr.11: 71438876-71438876 on Build GRCh38
rs779040090 Chr.11: 71438824-71438824 on Build GRCh38
rs1003973951 Chr.11: 71439216-71439216 on Build GRCh38
rs141246577 Chr.11: 71438820-71438820 on Build GRCh38
rs756579640 Chr.11: 71438846-71438846 on Build GRCh38
rs149207905 Chr.11: 71439255-71439255 on Build GRCh38
rs767377692 Chr.11: 71439050-71439050 on Build GRCh38
rs879926326 Chr.11: 71439041-71439041 on Build GRCh38
rs773048017 Chr.11: 71439065-71439065 on Build GRCh38
rs758669580 Chr.11: 71439098-71439098 on Build GRCh38
rs766838675 Chr.11: 71438920-71438920 on Build GRCh38
rs916898562 Chr.11: 71438800-71438800 on Build GRCh38
rs121909764 Chr.11: 71438980-71438980 on Build GRCh38
rs373780602 Chr.11: 71439120-71439120 on Build GRCh38
rs754320411 Chr.11: 71438921-71438921 on Build GRCh38
rs945370070 Chr.11: 71439094-71439094 on Build GRCh38
rs886044494 Chr.11: 71438968-71438968 on Build GRCh38
rs770925697 Chr.11: 71438940-71438940 on Build GRCh38
rs897411967 Chr.11: 71439192-71439192 on Build GRCh38
rs759967245 Chr.11: 71438974-71438974 on Build GRCh38
rs778674271 Chr.11: 71438927-71438927 on Build GRCh38
rs367621074 Chr.11: 71438841-71438841 on Build GRCh38
rs74742701 Chr.11: 71439112-71439112 on Build GRCh38
rs754553051 Chr.11: 71438926-71438926 on Build GRCh38
rs775905290 Chr.11: 71439129-71439129 on Build GRCh38
rs984562389 Chr.11: 71439026-71439026 on Build GRCh38
rs376031781 Chr.11: 71439053-71439053 on Build GRCh38
rs561380619 Chr.11: 71439239-71439239 on Build GRCh38
rs1048938576 Chr.11: 71438823-71438823 on Build GRCh38
rs200659923 Chr.11: 71439052-71439052 on Build GRCh38
rs978066502 Chr.11: 71439244-71439244 on Build GRCh38
rs375895720 Chr.11: 71438840-71438840 on Build GRCh38
rs572395354 Chr.11: 71439114-71439114 on Build GRCh38
rs750973099 Chr.11: 71438906-71438906 on Build GRCh38
rs1013707127 Chr.11: 71439170-71439170 on Build GRCh38

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