Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 74037606-74037845 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
6193488 c.169G>C p.G57R Chr.7: 74037712-74037712 on Build GRCh38
5207009 c.178G>C p.G60R Chr.7: 74037721-74037721 on Build GRCh38
6193489 c.169G>C p.G57R Chr.7: 74037712-74037712 on Build GRCh38
3367021 c.165G>A p.A55A Chr.7: 74037708-74037708 on Build GRCh38
3640413 c.168G>T p.L56L Chr.7: 74037711-74037711 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs782562859 Chr.7: 74037627-74037627 on Build GRCh38
rs782141308 Chr.7: 74037719-74037719 on Build GRCh38
rs896537913 Chr.7: 74037679-74037679 on Build GRCh38
rs782475698 Chr.7: 74037749-74037749 on Build GRCh38
rs782406469 Chr.7: 74037681-74037681 on Build GRCh38
rs141089547 Chr.7: 74037775-74037775 on Build GRCh38
rs781790610 Chr.7: 74037735-74037735 on Build GRCh38
rs782191688 Chr.7: 74037634-74037634 on Build GRCh38
rs2301995 Chr.7: 74037810-74037810 on Build GRCh38
rs781847678 Chr.7: 74037774-74037774 on Build GRCh38
rs1030566999 Chr.7: 74037781-74037781 on Build GRCh38
rs782359717 Chr.7: 74037673-74037673 on Build GRCh38
rs371258256 Chr.7: 74037779-74037779 on Build GRCh38
rs782628350 Chr.7: 74037677-74037677 on Build GRCh38
rs377019817 Chr.7: 74037812-74037812 on Build GRCh38
rs376512299 Chr.7: 74037708-74037708 on Build GRCh38
rs782528515 Chr.7: 74037689-74037689 on Build GRCh38
rs781859547 Chr.7: 74037756-74037756 on Build GRCh38
rs782217420 Chr.7: 74037659-74037659 on Build GRCh38
rs370961040 Chr.7: 74037752-74037752 on Build GRCh38
rs782238532 Chr.7: 74037794-74037794 on Build GRCh38
rs540977629 Chr.7: 74037652-74037652 on Build GRCh38
rs781867378 Chr.7: 74037714-74037714 on Build GRCh38
rs782096458 Chr.7: 74037705-74037705 on Build GRCh38
rs374252054 Chr.7: 74037687-74037687 on Build GRCh38
rs374473857 Chr.7: 74037757-74037757 on Build GRCh38
rs147723448 Chr.7: 74037763-74037763 on Build GRCh38
rs782208197 Chr.7: 74037778-74037778 on Build GRCh38
rs781943228 Chr.7: 74037693-74037693 on Build GRCh38
rs782264874 Chr.7: 74037680-74037680 on Build GRCh38
rs782319280 Chr.7: 74037691-74037691 on Build GRCh38

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