Product Details

Primer Sequences

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Primer Chromosome Location

Chr.7: 94603341-94603574 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

CASD1

Entrez Gene ID

64921

Gene Name

CAS1 domain containing 1

Gene Aliases

C7orf12, NBLA04196

UniGene

Hs.260041

Gene Chromosome Location

Chr.7: 94509858-94633465 on Build GRCh38

Transcripts

XM_011516495.2 NM_001099400.1 NM_001099401.1 NM_001301139.1 NM_003919.2 XM_005250675.4 XM_005250677.4 XM_011516663.2 XM_011516664.2 XM_011516665.2 XM_011516666.2 XM_011516667.2 XM_011516669.2 XM_017012763.1 XM_017012764.1 XM_017012765.1 XM_017012766.1 XM_017012767.1 XM_017012768.1 XM_017012769.1

Gene Symbol

SGCE

Entrez Gene ID

8910

Gene Name

sarcoglycan epsilon

Gene Aliases

DYT11, ESG

UniGene

Hs.371199

Gene Chromosome Location

Chr.7: 94585224-94656209 on Build GRCh38

Transcripts

XM_011516495.2 NM_001099400.1 NM_001099401.1 NM_001301139.1 NM_003919.2 XM_005250675.4 XM_005250677.4 XM_011516663.2 XM_011516664.2 XM_011516665.2 XM_011516666.2 XM_011516667.2 XM_011516669.2 XM_017012763.1 XM_017012764.1 XM_017012765.1 XM_017012766.1 XM_017012767.1 XM_017012768.1 XM_017012769.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
4725403	c.751G>T	p.E251*	Chr.7: 94603364-94603364 on Build GRCh38
1093289	c.774T>C	p.C258C	Chr.7: 94603341-94603341 on Build GRCh38
1150796	c.679G>A	p.G227S	Chr.7: 94603436-94603436 on Build GRCh38
1093290	c.693G>A	p.P231P	Chr.7: 94603422-94603422 on Build GRCh38
4725404	c.751G>T	p.E251*	Chr.7: 94603364-94603364 on Build GRCh38
5835467	c.729G>C	p.Q243H	Chr.7: 94603386-94603386 on Build GRCh38
4758918	c.664G>A	p.V222I	Chr.7: 94603451-94603451 on Build GRCh38
6357796	c.758A>T	p.E253V	Chr.7: 94603357-94603357 on Build GRCh38
6357797	c.758A>T	p.E253V	Chr.7: 94603357-94603357 on Build GRCh38
6361785	c.763G>A	p.V255I	Chr.7: 94603352-94603352 on Build GRCh38
6361784	c.763G>A	p.V255I	Chr.7: 94603352-94603352 on Build GRCh38
4758919	c.664G>A	p.V222I	Chr.7: 94603451-94603451 on Build GRCh38
4934233	c.726A>T	p.P242P	Chr.7: 94603389-94603389 on Build GRCh38
1597238	c.693G>A	p.P231P	Chr.7: 94603422-94603422 on Build GRCh38
4934234	c.726A>T	p.P242P	Chr.7: 94603389-94603389 on Build GRCh38
6776537	c.751G>T	p.E251*	Chr.7: 94603364-94603364 on Build GRCh38
4455421	c.765A>T	p.V255V	Chr.7: 94603350-94603350 on Build GRCh38
1597239	c.774T>C	p.C258C	Chr.7: 94603341-94603341 on Build GRCh38
4455422	c.765A>T	p.V255V	Chr.7: 94603350-94603350 on Build GRCh38
6050997	c.709C>T	p.R237*	Chr.7: 94603406-94603406 on Build GRCh38
7093117	c.711A>C	p.R237R	Chr.7: 94603404-94603404 on Build GRCh38
7093119	c.711A>C	p.R237R	Chr.7: 94603404-94603404 on Build GRCh38
7093118	c.711A>C	p.R237R	Chr.7: 94603404-94603404 on Build GRCh38
6198605	c.693G>A	p.P231P	Chr.7: 94603422-94603422 on Build GRCh38
2865150	c.709C>T	p.R237*	Chr.7: 94603406-94603406 on Build GRCh38
2865151	c.709C>T	p.R237*	Chr.7: 94603406-94603406 on Build GRCh38
4558161	c.757G>A	p.E253K	Chr.7: 94603358-94603358 on Build GRCh38
6357795	c.758A>T	p.E253V	Chr.7: 94603357-94603357 on Build GRCh38
453598	c.729G>C	p.Q243H	Chr.7: 94603386-94603386 on Build GRCh38
748455	c.679G>A	p.G227S	Chr.7: 94603436-94603436 on Build GRCh38
6361783	c.763G>A	p.V255I	Chr.7: 94603352-94603352 on Build GRCh38
4558162	c.757G>A	p.E253K	Chr.7: 94603358-94603358 on Build GRCh38
1134293	c.729G>C	p.Q243H	Chr.7: 94603386-94603386 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs969428171	Chr.7: 94603522-94603522 on Build GRCh38
rs398123812	Chr.7: 94603406-94603406 on Build GRCh38
rs190993040	Chr.7: 94603535-94603535 on Build GRCh38
rs780709842	Chr.7: 94603474-94603489 on Build GRCh38
rs748327900	Chr.7: 94603457-94603457 on Build GRCh38
rs754956483	Chr.7: 94603451-94603451 on Build GRCh38
rs755996611	Chr.7: 94603423-94603423 on Build GRCh38
rs142833106	Chr.7: 94603399-94603399 on Build GRCh38
rs752351941	Chr.7: 94603379-94603379 on Build GRCh38
rs757096943	Chr.7: 94603456-94603457 on Build GRCh38
rs774652355	Chr.7: 94603494-94603494 on Build GRCh38
rs201158658	Chr.7: 94603426-94603426 on Build GRCh38
rs377151565	Chr.7: 94603472-94603472 on Build GRCh38
rs958186178	Chr.7: 94603411-94603411 on Build GRCh38
rs757206832	Chr.7: 94603422-94603422 on Build GRCh38
rs767137229	Chr.7: 94603377-94603377 on Build GRCh38
rs1011137135	Chr.7: 94603497-94603497 on Build GRCh38
rs770044091	Chr.7: 94603460-94603460 on Build GRCh38
rs998557057	Chr.7: 94603389-94603389 on Build GRCh38
rs781270494	Chr.7: 94603452-94603452 on Build GRCh38
rs760437933	Chr.7: 94603383-94603383 on Build GRCh38
rs1057519246	Chr.7: 94603448-94603448 on Build GRCh38
rs1038323242	Chr.7: 94603525-94603525 on Build GRCh38
rs374149816	Chr.7: 94603445-94603445 on Build GRCh38
rs549213726	Chr.7: 94603441-94603441 on Build GRCh38
rs746397599	Chr.7: 94603495-94603495 on Build GRCh38
rs777703229	Chr.7: 94603529-94603529 on Build GRCh38
rs200912914	Chr.7: 94603420-94603420 on Build GRCh38
rs749670022	Chr.7: 94603486-94603486 on Build GRCh38
rs771460445	Chr.7: 94603490-94603490 on Build GRCh38
rs1024282207	Chr.7: 94603515-94603515 on Build GRCh38
rs200035109	Chr.7: 94603403-94603403 on Build GRCh38

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