Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 8041058-8041307 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
BLOC1S5
Entrez Gene ID
63915
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 5
Gene Aliases
BLOS5, MU, MUTED
UniGene
Hs.719272
Gene Chromosome Location
Chr.6: 8013567-8064414 on Build GRCh38
Transcripts
NM_001199322.1 NM_001199323.1 NM_201280.2 NR_037616.1 NR_037618.1

Gene Symbol
BLOC1S5-TXNDC5
Entrez Gene ID
100526836
Gene Name
BLOC1S5-TXNDC5 readthrough (NMD candidate)
Gene Aliases
MUTED-TXNDC5
UniGene
Hs.150837
Gene Chromosome Location
Chr.6: 7881250-8064414 on Build GRCh38
Transcripts
NM_001199322.1 NM_001199323.1 NM_201280.2 NR_037616.1 NR_037618.1

Gene Symbol
EEF1E1-BLOC1S5
Entrez Gene ID
100526837
Gene Name
EEF1E1-BLOC1S5 readthrough (NMD candidate)
Gene Aliases
EEF1E1-MUTED
UniGene
Hs.719272
Gene Chromosome Location
Chr.6: 8013567-8102595 on Build GRCh38
Transcripts
NM_001199322.1 NM_001199323.1 NM_201280.2 NR_037616.1 NR_037618.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
7292266 c.295C>T p.R99W Chr.6: 8041169-8041169 on Build GRCh38
4618634 c.241A>C p.N81H Chr.6: 8041223-8041223 on Build GRCh38
7089294 c.306C>T p.L102L Chr.6: 8041158-8041158 on Build GRCh38
3777866 c.271C>T p.L91F Chr.6: 8041193-8041193 on Build GRCh38
7300177 c.203G>A p.R68H Chr.6: 8041261-8041261 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs183115218 Chr.6: 8041262-8041262 on Build GRCh38
rs1004563103 Chr.6: 8041195-8041195 on Build GRCh38
rs1049690134 Chr.6: 8041244-8041244 on Build GRCh38
rs772880858 Chr.6: 8041172-8041172 on Build GRCh38
rs369265282 Chr.6: 8041169-8041169 on Build GRCh38
rs758583864 Chr.6: 8041146-8041146 on Build GRCh38
rs980395119 Chr.6: 8041158-8041158 on Build GRCh38
rs762542790 Chr.6: 8041182-8041182 on Build GRCh38
rs201631484 Chr.6: 8041213-8041213 on Build GRCh38
rs768471396 Chr.6: 8041163-8041163 on Build GRCh38
rs751573371 Chr.6: 8041261-8041261 on Build GRCh38
rs765659892 Chr.6: 8041238-8041238 on Build GRCh38
rs1027358198 Chr.6: 8041094-8041094 on Build GRCh38
rs951700875 Chr.6: 8041095-8041095 on Build GRCh38
rs746024429 Chr.6: 8041128-8041128 on Build GRCh38
rs758659311 Chr.6: 8041252-8041252 on Build GRCh38
rs776543181 Chr.6: 8041168-8041168 on Build GRCh38
rs761312185 Chr.6: 8041204-8041204 on Build GRCh38
rs780995130 Chr.6: 8041263-8041263 on Build GRCh38
rs757558851 Chr.6: 8041117-8041117 on Build GRCh38
rs1043961907 Chr.6: 8041229-8041229 on Build GRCh38
rs746979922 Chr.6: 8041162-8041162 on Build GRCh38
rs747814638 Chr.6: 8041223-8041223 on Build GRCh38
rs201502736 Chr.6: 8041151-8041151 on Build GRCh38
rs770478309 Chr.6: 8041190-8041190 on Build GRCh38
rs149984222 Chr.6: 8041235-8041235 on Build GRCh38
rs145404904 Chr.6: 8041243-8041243 on Build GRCh38
rs373227951 Chr.6: 8041203-8041203 on Build GRCh38
rs779294180 Chr.6: 8041124-8041124 on Build GRCh38
rs754148348 Chr.6: 8041102-8041102 on Build GRCh38
rs754317159 Chr.6: 8041220-8041220 on Build GRCh38
rs376789498 Chr.6: 8041256-8041256 on Build GRCh38

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