Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 6428243-6428502 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
ESPN
Entrez Gene ID
83715
Gene Name
espin
Gene Aliases
DFNB36, LP2654
UniGene
Hs.744222
Gene Chromosome Location
Chr.1: 6424776-6461367 on Build GRCh38
Transcripts
NM_031475.2 XM_005263501.2 XM_011542231.1 XM_011542232.1 XM_011542237.1 XM_011542238.2 XM_017002433.1 XM_017002434.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6064006 c.388G>A p.D130N Chr.1: 6428319-6428319 on Build GRCh38
7257636 c.398C>T p.A133V Chr.1: 6428329-6428329 on Build GRCh38
5723431 c.459C>T p.S153S Chr.1: 6428390-6428390 on Build GRCh38
7257450 c.390C>T p.D130D Chr.1: 6428321-6428321 on Build GRCh38
2238908 c.338G>A p.R113H Chr.1: 6428269-6428269 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs145666801 Chr.1: 6428313-6428313 on Build GRCh38
rs552379031 Chr.1: 6428312-6428312 on Build GRCh38
rs756669745 Chr.1: 6428346-6428346 on Build GRCh38
rs143543872 Chr.1: 6428338-6428338 on Build GRCh38
rs201813199 Chr.1: 6428273-6428273 on Build GRCh38
rs145002662 Chr.1: 6428403-6428403 on Build GRCh38
rs371554869 Chr.1: 6428451-6428451 on Build GRCh38
rs755009690 Chr.1: 6428310-6428310 on Build GRCh38
rs749289711 Chr.1: 6428369-6428369 on Build GRCh38
rs778970431 Chr.1: 6428410-6428410 on Build GRCh38
rs758026081 Chr.1: 6428279-6428279 on Build GRCh38
rs397833067 Chr.1: 6428406-6428406 on Build GRCh38
rs727504727 Chr.1: 6428370-6428370 on Build GRCh38
rs754914034 Chr.1: 6428373-6428373 on Build GRCh38
rs760314327 Chr.1: 6428441-6428441 on Build GRCh38
rs770342857 Chr.1: 6428393-6428393 on Build GRCh38
rs763679338 Chr.1: 6428282-6428282 on Build GRCh38
rs546577352 Chr.1: 6428442-6428442 on Build GRCh38
rs775996656 Chr.1: 6428402-6428402 on Build GRCh38
rs369494429 Chr.1: 6428444-6428444 on Build GRCh38
rs750010431 Chr.1: 6428353-6428353 on Build GRCh38
rs751233233 Chr.1: 6428283-6428283 on Build GRCh38
rs530495163 Chr.1: 6428281-6428281 on Build GRCh38
rs780647660 Chr.1: 6428310-6428310 on Build GRCh38
rs761424562 Chr.1: 6428411-6428411 on Build GRCh38
rs759977792 Chr.1: 6428337-6428337 on Build GRCh38
rs765867875 Chr.1: 6428274-6428274 on Build GRCh38
rs776191127 Chr.1: 6428339-6428339 on Build GRCh38
rs140382925 Chr.1: 6428344-6428344 on Build GRCh38
rs374134792 Chr.1: 6428330-6428330 on Build GRCh38
rs375866681 Chr.1: 6428461-6428461 on Build GRCh38
rs757407562 Chr.1: 6428460-6428460 on Build GRCh38
rs201911254 Chr.1: 6428405-6428405 on Build GRCh38
rs755951392 Chr.1: 6428358-6428358 on Build GRCh38
rs767227831 Chr.1: 6428348-6428348 on Build GRCh38
rs113326364 Chr.1: 6428398-6428398 on Build GRCh38
rs778659174 Chr.1: 6428379-6428379 on Build GRCh38
rs971782691 Chr.1: 6428475-6428475 on Build GRCh38
rs144234258 Chr.1: 6428363-6428363 on Build GRCh38
rs752557001 Chr.1: 6428448-6428449 on Build GRCh38
rs763542985 Chr.1: 6428340-6428340 on Build GRCh38
rs919425529 Chr.1: 6428323-6428323 on Build GRCh38
rs138979381 Chr.1: 6428328-6428328 on Build GRCh38
rs367832657 Chr.1: 6428269-6428269 on Build GRCh38
rs778941678 Chr.1: 6428448-6428448 on Build GRCh38
rs766911398 Chr.1: 6428431-6428431 on Build GRCh38
rs997445525 Chr.1: 6428397-6428397 on Build GRCh38
rs756932840 Chr.1: 6428306-6428306 on Build GRCh38
rs138239293 Chr.1: 6428327-6428327 on Build GRCh38
rs370070381 Chr.1: 6428445-6428445 on Build GRCh38
rs751089572 Chr.1: 6428345-6428345 on Build GRCh38
rs139223525 Chr.1: 6428382-6428382 on Build GRCh38
rs113467202 Chr.1: 6428329-6428329 on Build GRCh38
rs746069189 Chr.1: 6428387-6428387 on Build GRCh38
rs781518450 Chr.1: 6428384-6428384 on Build GRCh38
rs919425671 Chr.1: 6428479-6428479 on Build GRCh38
rs750146486 Chr.1: 6428436-6428436 on Build GRCh38
rs112712922 Chr.1: 6428321-6428321 on Build GRCh38
rs143577178 Chr.1: 6428268-6428268 on Build GRCh38

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