Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 74047556-74047787 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
ELN
Entrez Gene ID
2006
Gene Name
elastin
Gene Aliases
SVAS, WBS, WS
UniGene
Hs.647061
Gene Chromosome Location
Chr.7: 74027772-74069907 on Build GRCh38
Transcripts
NM_000501.3 NM_001081752.2 NM_001081753.2 NM_001081754.2 NM_001081755.2 NM_001278912.1 NM_001278913.1 NM_001278914.1 NM_001278915.1 NM_001278916.1 NM_001278917.1 NM_001278918.1 NM_001278939.1 XM_005250187.1 XM_005250188.1 XM_011515868.1 XM_011515869.1 XM_011515870.1 XM_011515871.1 XM_011515872.1 XM_011515873.1 XM_011515874.1 XM_011515875.1 XM_011515876.1 XM_011515877.1 XM_017011813.1 XM_017011814.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3663309 c.644-5T>A p.? Chr.7: 74047670-74047670 on Build GRCh38
3640427 c.648C>T p.G216G Chr.7: 74047679-74047679 on Build GRCh38
1623084 c.644-5T>A p.? Chr.7: 74047670-74047670 on Build GRCh38
3640426 c.648C>T p.G216G Chr.7: 74047679-74047679 on Build GRCh38
3882286 c.660C>A p.P220P Chr.7: 74047691-74047691 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs782286420 Chr.7: 74047766-74047766 on Build GRCh38
rs985241591 Chr.7: 74047653-74047653 on Build GRCh38
rs367744473 Chr.7: 74047645-74047645 on Build GRCh38
rs904602303 Chr.7: 74047607-74047607 on Build GRCh38
rs782791469 Chr.7: 74047734-74047734 on Build GRCh38
rs782686392 Chr.7: 74047601-74047601 on Build GRCh38
rs781984503 Chr.7: 74047723-74047723 on Build GRCh38
rs876657806 Chr.7: 74047721-74047722 on Build GRCh38
rs574535593 Chr.7: 74047624-74047624 on Build GRCh38
rs1031629350 Chr.7: 74047635-74047635 on Build GRCh38
rs368987699 Chr.7: 74047743-74047743 on Build GRCh38
rs781816193 Chr.7: 74047756-74047756 on Build GRCh38
rs781920325 Chr.7: 74047669-74047669 on Build GRCh38
rs781898413 Chr.7: 74047740-74047740 on Build GRCh38
rs200722774 Chr.7: 74047648-74047648 on Build GRCh38
rs377426079 Chr.7: 74047742-74047742 on Build GRCh38
rs201012726 Chr.7: 74047690-74047690 on Build GRCh38
rs201075683 Chr.7: 74047762-74047762 on Build GRCh38
rs200068322 Chr.7: 74047682-74047682 on Build GRCh38
rs41435449 Chr.7: 74047647-74047647 on Build GRCh38
rs782531336 Chr.7: 74047630-74047630 on Build GRCh38
rs1044844410 Chr.7: 74047604-74047604 on Build GRCh38
rs201859539 Chr.7: 74047667-74047667 on Build GRCh38
rs145612009 Chr.7: 74047678-74047678 on Build GRCh38
rs375036001 Chr.7: 74047665-74047665 on Build GRCh38
rs371233972 Chr.7: 74047641-74047641 on Build GRCh38
rs782617237 Chr.7: 74047643-74047643 on Build GRCh38
rs998478067 Chr.7: 74047640-74047640 on Build GRCh38
rs782130406 Chr.7: 74047728-74047728 on Build GRCh38
rs41476152 Chr.7: 74047639-74047639 on Build GRCh38
rs1013018962 Chr.7: 74047594-74047594 on Build GRCh38
rs369674245 Chr.7: 74047675-74047675 on Build GRCh38
rs782632551 Chr.7: 74047767-74047767 on Build GRCh38
rs782379778 Chr.7: 74047646-74047646 on Build GRCh38

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