Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 74036504-74036745 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
rs575249907 Chr.7: 74036626-74036626 on Build GRCh38
rs535249280 Chr.7: 74036536-74036536 on Build GRCh38
rs782553474 Chr.7: 74036636-74036636 on Build GRCh38
rs782300906 Chr.7: 74036523-74036523 on Build GRCh38
rs782134470 Chr.7: 74036537-74036537 on Build GRCh38
rs962704957 Chr.7: 74036718-74036718 on Build GRCh38
rs878854451 Chr.7: 74036551-74036552 on Build GRCh38
rs782295685 Chr.7: 74036605-74036605 on Build GRCh38
rs373382261 Chr.7: 74036529-74036529 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
rs782721415 Chr.7: 74036548-74036548 on Build GRCh38
rs782184746 Chr.7: 74036563-74036563 on Build GRCh38
rs782477397 Chr.7: 74036565-74036565 on Build GRCh38
rs782200971 Chr.7: 74036530-74036530 on Build GRCh38
rs782019721 Chr.7: 74036602-74036602 on Build GRCh38
rs144757453 Chr.7: 74036566-74036566 on Build GRCh38
rs985981424 Chr.7: 74036673-74036673 on Build GRCh38
rs781834094 Chr.7: 74036632-74036632 on Build GRCh38
rs781955370 Chr.7: 74036612-74036612 on Build GRCh38
rs377436019 Chr.7: 74036531-74036531 on Build GRCh38
rs781797608 Chr.7: 74036627-74036627 on Build GRCh38
rs782388951 Chr.7: 74036597-74036597 on Build GRCh38
rs189420222 Chr.7: 74036624-74036624 on Build GRCh38
rs782192434 Chr.7: 74036544-74036545 on Build GRCh38
rs558065519 Chr.7: 74036677-74036677 on Build GRCh38
rs782331687 Chr.7: 74036606-74036606 on Build GRCh38
rs202142516 Chr.7: 74036550-74036550 on Build GRCh38
rs782028490 Chr.7: 74036541-74036541 on Build GRCh38
rs200810494 Chr.7: 74036580-74036580 on Build GRCh38
rs782811785 Chr.7: 74036545-74036545 on Build GRCh38
rs782069123 Chr.7: 74036545-74036545 on Build GRCh38
rs782791376 Chr.7: 74036539-74036539 on Build GRCh38
rs782004311 Chr.7: 74036621-74036621 on Build GRCh38
rs55820319 Chr.7: 74036635-74036635 on Build GRCh38
rs1016936006 Chr.7: 74036701-74036701 on Build GRCh38

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