Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 74035229-74035500 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
3640409 c.88C>T p.P30S Chr.7: 74035369-74035369 on Build GRCh38
7179683 c.130C>T p.P44S Chr.7: 74035411-74035411 on Build GRCh38
4363098 c.133+5C>T p.? Chr.7: 74035419-74035419 on Build GRCh38
3640411 c.119G>A p.G40E Chr.7: 74035400-74035400 on Build GRCh38
6871489 c.104G>A p.G35D Chr.7: 74035385-74035385 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs574513909 Chr.7: 74035282-74035282 on Build GRCh38
rs377303677 Chr.7: 74035452-74035452 on Build GRCh38
rs934664283 Chr.7: 74035340-74035340 on Build GRCh38
rs28763980 Chr.7: 74035425-74035425 on Build GRCh38
rs781951450 Chr.7: 74035394-74035394 on Build GRCh38
rs782707995 Chr.7: 74035429-74035430 on Build GRCh38
rs542130224 Chr.7: 74035306-74035306 on Build GRCh38
rs781876912 Chr.7: 74035408-74035408 on Build GRCh38
rs371443017 Chr.7: 74035313-74035313 on Build GRCh38
rs782193520 Chr.7: 74035365-74035365 on Build GRCh38
rs782513031 Chr.7: 74035432-74035432 on Build GRCh38
rs782625771 Chr.7: 74035373-74035373 on Build GRCh38
rs183629619 Chr.7: 74035311-74035311 on Build GRCh38
rs782808104 Chr.7: 74035421-74035421 on Build GRCh38
rs947508444 Chr.7: 74035296-74035296 on Build GRCh38
rs782647891 Chr.7: 74035332-74035332 on Build GRCh38
rs782423702 Chr.7: 74035469-74035469 on Build GRCh38
rs373683865 Chr.7: 74035346-74035346 on Build GRCh38
rs782038454 Chr.7: 74035385-74035385 on Build GRCh38
rs938974226 Chr.7: 74035254-74035254 on Build GRCh38
rs782617573 Chr.7: 74035317-74035317 on Build GRCh38
rs782104032 Chr.7: 74035395-74035395 on Build GRCh38
rs545686066 Chr.7: 74035344-74035344 on Build GRCh38
rs992132506 Chr.7: 74035274-74035274 on Build GRCh38
rs727503023 Chr.7: 74035412-74035412 on Build GRCh38
rs375144839 Chr.7: 74035419-74035419 on Build GRCh38
rs144223231 Chr.7: 74035430-74035430 on Build GRCh38
rs782391704 Chr.7: 74035376-74035376 on Build GRCh38
rs781786767 Chr.7: 74035423-74035423 on Build GRCh38
rs916116041 Chr.7: 74035281-74035281 on Build GRCh38
rs530068734 Chr.7: 74035459-74035459 on Build GRCh38
rs888291783 Chr.7: 74035464-74035464 on Build GRCh38
rs782145624 Chr.7: 74035450-74035450 on Build GRCh38
rs55951999 Chr.7: 74035400-74035400 on Build GRCh38
rs368112890 Chr.7: 74035390-74035390 on Build GRCh38
rs782517405 Chr.7: 74035330-74035330 on Build GRCh38
rs782238204 Chr.7: 74035375-74035375 on Build GRCh38
rs781844782 Chr.7: 74035322-74035322 on Build GRCh38
rs782637996 Chr.7: 74035434-74035434 on Build GRCh38
rs530703613 Chr.7: 74035341-74035341 on Build GRCh38
rs372742689 Chr.7: 74035473-74035473 on Build GRCh38

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