Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 74036363-74036799 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
6653435 c.134G>A p.G45E Chr.7: 74036555-74036555 on Build GRCh38
6653432 c.134-10delC p.? Chr.7: 74036545-74036545 on Build GRCh38
4405689 c.163+2T>G p.? Chr.7: 74036586-74036586 on Build GRCh38
5036947 c.134-8C>A p.? Chr.7: 74036547-74036547 on Build GRCh38
4794487 c.140G>A p.G47D Chr.7: 74036561-74036561 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs782553474 Chr.7: 74036636-74036636 on Build GRCh38
rs941356880 Chr.7: 74036496-74036496 on Build GRCh38
rs939211799 Chr.7: 74036500-74036500 on Build GRCh38
rs782414861 Chr.7: 74036774-74036774 on Build GRCh38
rs782134470 Chr.7: 74036537-74036537 on Build GRCh38
rs909923741 Chr.7: 74036460-74036460 on Build GRCh38
rs782295685 Chr.7: 74036605-74036605 on Build GRCh38
rs878854451 Chr.7: 74036551-74036552 on Build GRCh38
rs954298521 Chr.7: 74036445-74036445 on Build GRCh38
rs186990808 Chr.7: 74036618-74036618 on Build GRCh38
rs781936291 Chr.7: 74036527-74036527 on Build GRCh38
rs782061200 Chr.7: 74036628-74036628 on Build GRCh38
rs782779433 Chr.7: 74036620-74036620 on Build GRCh38
rs782490528 Chr.7: 74036633-74036633 on Build GRCh38
rs782477397 Chr.7: 74036565-74036565 on Build GRCh38
rs782200971 Chr.7: 74036530-74036530 on Build GRCh38
rs369375325 Chr.7: 74036767-74036767 on Build GRCh38
rs144757453 Chr.7: 74036566-74036566 on Build GRCh38
rs781984333 Chr.7: 74036777-74036777 on Build GRCh38
rs782399584 Chr.7: 74036420-74036420 on Build GRCh38
rs781955370 Chr.7: 74036612-74036612 on Build GRCh38
rs781834094 Chr.7: 74036632-74036632 on Build GRCh38
rs377436019 Chr.7: 74036531-74036531 on Build GRCh38
rs782388951 Chr.7: 74036597-74036597 on Build GRCh38
rs782192434 Chr.7: 74036544-74036545 on Build GRCh38
rs189420222 Chr.7: 74036624-74036624 on Build GRCh38
rs369874288 Chr.7: 74036520-74036520 on Build GRCh38
rs782811785 Chr.7: 74036545-74036545 on Build GRCh38
rs200810494 Chr.7: 74036580-74036580 on Build GRCh38
rs782069123 Chr.7: 74036545-74036545 on Build GRCh38
rs1016936006 Chr.7: 74036701-74036701 on Build GRCh38
rs570942030 Chr.7: 74036450-74036450 on Build GRCh38
rs575249907 Chr.7: 74036626-74036626 on Build GRCh38
rs535249280 Chr.7: 74036536-74036536 on Build GRCh38
rs181870786 Chr.7: 74036411-74036411 on Build GRCh38
rs782607641 Chr.7: 74036436-74036436 on Build GRCh38
rs782300906 Chr.7: 74036523-74036523 on Build GRCh38
rs139983234 Chr.7: 74036756-74036756 on Build GRCh38
rs782224240 Chr.7: 74036506-74036506 on Build GRCh38
rs962704957 Chr.7: 74036718-74036718 on Build GRCh38
rs373382261 Chr.7: 74036529-74036529 on Build GRCh38
rs972627878 Chr.7: 74036497-74036497 on Build GRCh38
rs572664967 Chr.7: 74036750-74036750 on Build GRCh38
rs782721415 Chr.7: 74036548-74036548 on Build GRCh38
rs782184746 Chr.7: 74036563-74036563 on Build GRCh38
rs782019721 Chr.7: 74036602-74036602 on Build GRCh38
rs985981424 Chr.7: 74036673-74036673 on Build GRCh38
rs939291327 Chr.7: 74036769-74036769 on Build GRCh38
rs781797608 Chr.7: 74036627-74036627 on Build GRCh38
rs552879459 Chr.7: 74036429-74036429 on Build GRCh38
rs202142516 Chr.7: 74036550-74036550 on Build GRCh38
rs558065519 Chr.7: 74036677-74036677 on Build GRCh38
rs782331687 Chr.7: 74036606-74036606 on Build GRCh38
rs985544376 Chr.7: 74036454-74036454 on Build GRCh38
rs782028490 Chr.7: 74036541-74036541 on Build GRCh38
rs782004311 Chr.7: 74036621-74036621 on Build GRCh38
rs782791376 Chr.7: 74036539-74036539 on Build GRCh38
rs55820319 Chr.7: 74036635-74036635 on Build GRCh38
rs918481086 Chr.7: 74036499-74036499 on Build GRCh38
rs368959974 Chr.7: 74036498-74036498 on Build GRCh38

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