Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 94600558-94601072 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
CASD1
Entrez Gene ID
64921
Gene Name
CAS1 domain containing 1
Gene Aliases
C7orf12, NBLA04196
UniGene
Hs.260041
Gene Chromosome Location
Chr.7: 94509858-94633465 on Build GRCh38
Transcripts
XM_011516495.2 NM_001099400.1 NM_001099401.1 NM_001301139.1 NM_003919.2 XM_005250675.4 XM_005250677.4 XM_011516663.2 XM_011516664.2 XM_011516665.2 XM_011516666.2 XM_011516667.2 XM_011516669.2 XM_017012763.1 XM_017012764.1 XM_017012765.1 XM_017012766.1 XM_017012767.1 XM_017012768.1 XM_017012769.1

Gene Symbol
SGCE
Entrez Gene ID
8910
Gene Name
sarcoglycan epsilon
Gene Aliases
DYT11, ESG
UniGene
Hs.371199
Gene Chromosome Location
Chr.7: 94585224-94656209 on Build GRCh38
Transcripts
XM_011516495.2 NM_001099400.1 NM_001099401.1 NM_001301139.1 NM_003919.2 XM_005250675.4 XM_005250677.4 XM_011516663.2 XM_011516664.2 XM_011516665.2 XM_011516666.2 XM_011516667.2 XM_011516669.2 XM_017012763.1 XM_017012764.1 XM_017012765.1 XM_017012766.1 XM_017012767.1 XM_017012768.1 XM_017012769.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1154874 c.1022G>A p.C341Y Chr.7: 94600661-94600661 on Build GRCh38
3642492 c.991C>T p.L331F Chr.7: 94600692-94600692 on Build GRCh38
1093288 c.1022G>A p.C341Y Chr.7: 94600661-94600661 on Build GRCh38
3642493 c.991C>T p.L331F Chr.7: 94600692-94600692 on Build GRCh38
5830765 c.885A>G p.L295L Chr.7: 94600798-94600798 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs539333988 Chr.7: 94600738-94600738 on Build GRCh38
rs200956601 Chr.7: 94600939-94600939 on Build GRCh38
rs764696852 Chr.7: 94600658-94600658 on Build GRCh38
rs11548286 Chr.7: 94600784-94600784 on Build GRCh38
rs925173811 Chr.7: 94600908-94600908 on Build GRCh38
rs142079200 Chr.7: 94600799-94600799 on Build GRCh38
rs764483578 Chr.7: 94600774-94600774 on Build GRCh38
rs774546647 Chr.7: 94600723-94600723 on Build GRCh38
rs774601701 Chr.7: 94600617-94600617 on Build GRCh38
rs922953253 Chr.7: 94600806-94600806 on Build GRCh38
rs147550814 Chr.7: 94600716-94600716 on Build GRCh38
rs768810764 Chr.7: 94600862-94600862 on Build GRCh38
rs751531508 Chr.7: 94600631-94600631 on Build GRCh38
rs866020566 Chr.7: 94600668-94600668 on Build GRCh38
rs781005887 Chr.7: 94600804-94600804 on Build GRCh38
rs370373105 Chr.7: 94600895-94600895 on Build GRCh38
rs755083075 Chr.7: 94600655-94600655 on Build GRCh38
rs544587317 Chr.7: 94600946-94600946 on Build GRCh38
rs533652380 Chr.7: 94600647-94600647 on Build GRCh38
rs576417569 Chr.7: 94600815-94600815 on Build GRCh38
rs772144979 Chr.7: 94600819-94600819 on Build GRCh38
rs772177078 Chr.7: 94600744-94600744 on Build GRCh38
rs769888226 Chr.7: 94600717-94600717 on Build GRCh38
rs779825167 Chr.7: 94600687-94600687 on Build GRCh38
rs765792098 Chr.7: 94600788-94600788 on Build GRCh38
rs990409826 Chr.7: 94601028-94601028 on Build GRCh38
rs937688741 Chr.7: 94600999-94600999 on Build GRCh38
rs866998702 Chr.7: 94600854-94600854 on Build GRCh38
rs892277057 Chr.7: 94601009-94601009 on Build GRCh38
rs747227969 Chr.7: 94600847-94600847 on Build GRCh38
rs887276817 Chr.7: 94600592-94600592 on Build GRCh38
rs556458255 Chr.7: 94600803-94600803 on Build GRCh38
rs749932459 Chr.7: 94600790-94600790 on Build GRCh38
rs762234215 Chr.7: 94600876-94600876 on Build GRCh38
rs780870614 Chr.7: 94600714-94600714 on Build GRCh38
rs985355029 Chr.7: 94600735-94600735 on Build GRCh38
rs760832014 Chr.7: 94600755-94600755 on Build GRCh38
rs776967750 Chr.7: 94600863-94600863 on Build GRCh38
rs936569103 Chr.7: 94600922-94600923 on Build GRCh38
rs917589636 Chr.7: 94601045-94601045 on Build GRCh38
rs986900959 Chr.7: 94600833-94600833 on Build GRCh38
rs749985422 Chr.7: 94600674-94600674 on Build GRCh38
rs367813861 Chr.7: 94600888-94600888 on Build GRCh38
rs764383967 Chr.7: 94600654-94600654 on Build GRCh38
rs774701123 Chr.7: 94600746-94600746 on Build GRCh38
rs553677309 Chr.7: 94600650-94600650 on Build GRCh38
rs200400681 Chr.7: 94600841-94600841 on Build GRCh38
rs777023291 Chr.7: 94600776-94600776 on Build GRCh38
rs567770367 Chr.7: 94600594-94600594 on Build GRCh38
rs1050342411 Chr.7: 94600872-94600872 on Build GRCh38
rs775727447 Chr.7: 94600749-94600749 on Build GRCh38
rs775468466 Chr.7: 94600827-94600827 on Build GRCh38
rs200982510 Chr.7: 94600871-94600871 on Build GRCh38
rs757835571 Chr.7: 94600791-94600791 on Build GRCh38
rs1034994266 Chr.7: 94600657-94600657 on Build GRCh38
rs758035606 Chr.7: 94600685-94600685 on Build GRCh38
rs863223284 Chr.7: 94600798-94600799 on Build GRCh38
rs555003739 Chr.7: 94601010-94601010 on Build GRCh38
rs770150906 Chr.7: 94600880-94600880 on Build GRCh38
rs765872886 Chr.7: 94600894-94600894 on Build GRCh38
rs762287154 Chr.7: 94600778-94600778 on Build GRCh38
rs763390507 Chr.7: 94600889-94600889 on Build GRCh38
rs754742075 Chr.7: 94600710-94600710 on Build GRCh38
rs145040065 Chr.7: 94600708-94600708 on Build GRCh38
rs748001731 Chr.7: 94600814-94600814 on Build GRCh38
rs201234561 Chr.7: 94600828-94600828 on Build GRCh38
rs863223283 Chr.7: 94600844-94600848 on Build GRCh38
rs777368840 Chr.7: 94600598-94600602 on Build GRCh38
rs559353446 Chr.7: 94600709-94600709 on Build GRCh38
rs35069255 Chr.7: 94600589-94600590 on Build GRCh38
rs759798699 Chr.7: 94600620-94600620 on Build GRCh38
rs1010341132 Chr.7: 94601030-94601030 on Build GRCh38
rs375828258 Chr.7: 94600797-94600797 on Build GRCh38
rs767896182 Chr.7: 94600626-94600626 on Build GRCh38
rs757796461 Chr.7: 94600656-94600656 on Build GRCh38

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