Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 74042809-74043044 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
6653475 c.367G>A p.V123M Chr.7: 74043025-74043025 on Build GRCh38
4363110 c.349G>A p.G117R Chr.7: 74043007-74043007 on Build GRCh38
3882284 c.330T>C p.A110A Chr.7: 74042988-74042988 on Build GRCh38
3087439 c.349G>A p.G117R Chr.7: 74043007-74043007 on Build GRCh38
3882285 c.330T>C p.A110A Chr.7: 74042988-74042988 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs371556007 Chr.7: 74042924-74042924 on Build GRCh38
rs1013452419 Chr.7: 74042882-74042882 on Build GRCh38
rs781810782 Chr.7: 74042956-74042956 on Build GRCh38
rs782710783 Chr.7: 74042955-74042955 on Build GRCh38
rs149457046 Chr.7: 74043003-74043003 on Build GRCh38
rs528174413 Chr.7: 74042894-74042894 on Build GRCh38
rs61734587 Chr.7: 74043024-74043024 on Build GRCh38
rs567930965 Chr.7: 74042932-74042932 on Build GRCh38
rs111777143 Chr.7: 74042841-74042841 on Build GRCh38
rs781847456 Chr.7: 74042967-74042967 on Build GRCh38
rs137953195 Chr.7: 74042986-74042986 on Build GRCh38
rs535455482 Chr.7: 74042954-74042954 on Build GRCh38
rs979586091 Chr.7: 74042907-74042907 on Build GRCh38
rs552813579 Chr.7: 74042844-74042844 on Build GRCh38
rs782510334 Chr.7: 74042958-74042959 on Build GRCh38
rs782428955 Chr.7: 74042985-74042985 on Build GRCh38
rs191823533 Chr.7: 74042892-74042892 on Build GRCh38
rs942805371 Chr.7: 74043016-74043016 on Build GRCh38
rs782282589 Chr.7: 74043001-74043001 on Build GRCh38
rs782625030 Chr.7: 74042966-74042966 on Build GRCh38
rs924981522 Chr.7: 74042917-74042917 on Build GRCh38
rs373451032 Chr.7: 74042968-74042968 on Build GRCh38
rs200397639 Chr.7: 74042964-74042964 on Build GRCh38
rs782100454 Chr.7: 74042943-74042943 on Build GRCh38
rs782359120 Chr.7: 74042990-74042990 on Build GRCh38
rs28763981 Chr.7: 74042925-74042925 on Build GRCh38
rs1023453718 Chr.7: 74042884-74042884 on Build GRCh38
rs782437876 Chr.7: 74043006-74043006 on Build GRCh38
rs782069403 Chr.7: 74043011-74043011 on Build GRCh38
rs782652262 Chr.7: 74042971-74042971 on Build GRCh38
rs145519139 Chr.7: 74042984-74042984 on Build GRCh38
rs781922544 Chr.7: 74043010-74043010 on Build GRCh38
rs989096834 Chr.7: 74042952-74042952 on Build GRCh38
rs531401757 Chr.7: 74042996-74042996 on Build GRCh38

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