Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 39744177-39744402 on Build GRCh38 View in UCSC browser

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

ENTHD1

Entrez Gene ID

150350

Gene Name

ENTH domain containing 1

Gene Aliases

CACNA1I, dJ370M22.3

UniGene

Hs.474869

Gene Chromosome Location

Chr.22: 39743044-39893884 on Build GRCh38

Transcripts

NM_152512.3 XM_006724149.3 XM_006724150.3 XM_006724151.1 XM_011529927.2 XM_011529928.2 XM_011529930.2

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
1714409	c.1313C>T	p.S438L	Chr.22: 39744190-39744190 on Build GRCh38
5859424	c.1256C>T	p.P419L	Chr.22: 39744247-39744247 on Build GRCh38
3554753	c.1223C>T	p.S408L	Chr.22: 39744280-39744280 on Build GRCh38
6276454	c.1315C>A	p.P439T	Chr.22: 39744188-39744188 on Build GRCh38
3554752	c.1262C>T	p.S421F	Chr.22: 39744241-39744241 on Build GRCh38
1251219	c.1295A>C	p.K432T	Chr.22: 39744208-39744208 on Build GRCh38
1251218	c.1324G>A	p.A442T	Chr.22: 39744179-39744179 on Build GRCh38
1416376	c.1321C>A	p.L441M	Chr.22: 39744182-39744182 on Build GRCh38
4464269	c.1326C>A	p.A442A	Chr.22: 39744177-39744177 on Build GRCh38
1308186	c.1321C>T	p.L441L	Chr.22: 39744182-39744182 on Build GRCh38
4463050	c.1273C>T	p.P425S	Chr.22: 39744230-39744230 on Build GRCh38
6095307	c.1234G>A	p.E412K	Chr.22: 39744269-39744269 on Build GRCh38
382267	c.1323G>T	p.L441L	Chr.22: 39744180-39744180 on Build GRCh38
1308187	c.1306C>G	p.L436V	Chr.22: 39744197-39744197 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs767590468	Chr.22: 39744285-39744285 on Build GRCh38
rs765680600	Chr.22: 39744319-39744319 on Build GRCh38
rs868164759	Chr.22: 39744281-39744281 on Build GRCh38
rs752651560	Chr.22: 39744241-39744241 on Build GRCh38
rs374392116	Chr.22: 39744244-39744244 on Build GRCh38
rs191007110	Chr.22: 39744294-39744294 on Build GRCh38
rs758936453	Chr.22: 39744324-39744324 on Build GRCh38
rs780779007	Chr.22: 39744328-39744328 on Build GRCh38
rs200008989	Chr.22: 39744298-39744298 on Build GRCh38
rs762780840	Chr.22: 39744239-39744239 on Build GRCh38
rs775390948	Chr.22: 39744292-39744292 on Build GRCh38
rs771713637	Chr.22: 39744356-39744356 on Build GRCh38
rs755622430	Chr.22: 39744334-39744334 on Build GRCh38
rs759413013	Chr.22: 39744259-39744259 on Build GRCh38
rs747664310	Chr.22: 39744332-39744332 on Build GRCh38
rs904668138	Chr.22: 39744366-39744366 on Build GRCh38
rs769284855	Chr.22: 39744214-39744214 on Build GRCh38
rs757758541	Chr.22: 39744307-39744307 on Build GRCh38
rs1039634295	Chr.22: 39744330-39744330 on Build GRCh38
rs918254917	Chr.22: 39744220-39744220 on Build GRCh38
rs115302874	Chr.22: 39744238-39744238 on Build GRCh38
rs115673469	Chr.22: 39744223-39744223 on Build GRCh38
rs750977073	Chr.22: 39744323-39744323 on Build GRCh38
rs943589573	Chr.22: 39744299-39744299 on Build GRCh38

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