Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 74028119-74028346 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
5873042 c.7G>A p.G3S Chr.7: 74028194-74028194 on Build GRCh38
5407864 c.3G>A p.M1I Chr.7: 74028190-74028190 on Build GRCh38
6530140 c.54G>C p.L18L Chr.7: 74028241-74028241 on Build GRCh38
5873041 c.7G>A p.G3S Chr.7: 74028194-74028194 on Build GRCh38
6653461 c.29G>A p.R10Q Chr.7: 74028216-74028216 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs782267385 Chr.7: 74028151-74028151 on Build GRCh38
rs782339711 Chr.7: 74028158-74028158 on Build GRCh38
rs373874745 Chr.7: 74028298-74028298 on Build GRCh38
rs782223292 Chr.7: 74028215-74028215 on Build GRCh38
rs781829148 Chr.7: 74028181-74028181 on Build GRCh38
rs782452483 Chr.7: 74028202-74028202 on Build GRCh38
rs370874654 Chr.7: 74028297-74028297 on Build GRCh38
rs782483220 Chr.7: 74028248-74028248 on Build GRCh38
rs781894708 Chr.7: 74028255-74028255 on Build GRCh38
rs782540463 Chr.7: 74028193-74028193 on Build GRCh38
rs782196032 Chr.7: 74028157-74028157 on Build GRCh38
rs782153925 Chr.7: 74028308-74028308 on Build GRCh38
rs41410045 Chr.7: 74028150-74028150 on Build GRCh38
rs781784045 Chr.7: 74028201-74028201 on Build GRCh38
rs782284924 Chr.7: 74028167-74028167 on Build GRCh38
rs727503022 Chr.7: 74028230-74028231 on Build GRCh38
rs782389304 Chr.7: 74028151-74028152 on Build GRCh38
rs782568692 Chr.7: 74028156-74028156 on Build GRCh38
rs782750950 Chr.7: 74028314-74028314 on Build GRCh38
rs781987539 Chr.7: 74028181-74028182 on Build GRCh38
rs559210020 Chr.7: 74028207-74028207 on Build GRCh38
rs931132347 Chr.7: 74028275-74028275 on Build GRCh38
rs782411752 Chr.7: 74028153-74028153 on Build GRCh38
rs782448509 Chr.7: 74028313-74028313 on Build GRCh38
rs781942461 Chr.7: 74028214-74028214 on Build GRCh38
rs782133424 Chr.7: 74028164-74028164 on Build GRCh38
rs782047987 Chr.7: 74028175-74028175 on Build GRCh38
rs782666754 Chr.7: 74028196-74028196 on Build GRCh38
rs559112365 Chr.7: 74028143-74028143 on Build GRCh38
rs781964320 Chr.7: 74028162-74028162 on Build GRCh38
rs782107954 Chr.7: 74028184-74028184 on Build GRCh38
rs782601747 Chr.7: 74028204-74028204 on Build GRCh38
rs782814385 Chr.7: 74028311-74028311 on Build GRCh38
rs781820838 Chr.7: 74028236-74028236 on Build GRCh38
rs142370984 Chr.7: 74028256-74028256 on Build GRCh38
rs781978295 Chr.7: 74028304-74028304 on Build GRCh38
rs782252362 Chr.7: 74028272-74028272 on Build GRCh38
rs782365678 Chr.7: 74028218-74028218 on Build GRCh38
rs782737546 Chr.7: 74028300-74028300 on Build GRCh38
rs149127344 Chr.7: 74028221-74028221 on Build GRCh38
rs373864057 Chr.7: 74028220-74028220 on Build GRCh38
rs782292334 Chr.7: 74028213-74028213 on Build GRCh38
rs45569239 Chr.7: 74028148-74028148 on Build GRCh38
rs781792091 Chr.7: 74028312-74028312 on Build GRCh38
rs569660857 Chr.7: 74028208-74028208 on Build GRCh38
rs782726436 Chr.7: 74028224-74028224 on Build GRCh38
rs541115449 Chr.7: 74028179-74028179 on Build GRCh38
rs782761490 Chr.7: 74028251-74028251 on Build GRCh38
rs781993784 Chr.7: 74028219-74028219 on Build GRCh38
rs542540015 Chr.7: 74028205-74028205 on Build GRCh38
rs782766792 Chr.7: 74028192-74028192 on Build GRCh38
rs863223518 Chr.7: 74028189-74028189 on Build GRCh38
rs151272992 Chr.7: 74028261-74028261 on Build GRCh38

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