Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 55719022-55719285 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
BLOC1S1
Entrez Gene ID
2647
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 1
Gene Aliases
BLOS1, BORCS1, GCN5L1, MICoA, RT14
UniGene
Hs.600940
Gene Chromosome Location
Chr.12: 55716034-55719707 on Build GRCh38
Transcripts
NM_001487.3 NR_037655.1 NR_037656.1 NR_037657.1 NR_037658.1

Gene Symbol
BLOC1S1-RDH5
Entrez Gene ID
100528022
Gene Name
BLOC1S1-RDH5 readthrough
Gene Aliases
-
UniGene
Hs.600940
Gene Chromosome Location
Chr.12: 55716034-55724742 on Build GRCh38
Transcripts
NM_001487.3 NR_037655.1 NR_037656.1 NR_037657.1 NR_037658.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4720915 c.220G>A p.V74M Chr.12: 55719092-55719092 on Build GRCh38
3812499 c.246G>A p.E82E Chr.12: 55719202-55719202 on Build GRCh38
6305544 c.256C>A p.H86N Chr.12: 55719128-55719128 on Build GRCh38
4637290 c.343G>T p.A115S Chr.12: 55719215-55719215 on Build GRCh38
4601581 c.271C>A p.L91I Chr.12: 55719143-55719143 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs770591021 Chr.12: 55719224-55719224 on Build GRCh38
rs369588426 Chr.12: 55719191-55719191 on Build GRCh38
rs750958417 Chr.12: 55719159-55719159 on Build GRCh38
rs749550970 Chr.12: 55719054-55719054 on Build GRCh38
rs773076005 Chr.12: 55719215-55719215 on Build GRCh38
rs773196609 Chr.12: 55719088-55719088 on Build GRCh38
rs758048845 Chr.12: 55719137-55719137 on Build GRCh38
rs373369260 Chr.12: 55719071-55719073 on Build GRCh38
rs764978000 Chr.12: 55719231-55719231 on Build GRCh38
rs756388521 Chr.12: 55719171-55719171 on Build GRCh38
rs755202948 Chr.12: 55719188-55719188 on Build GRCh38
rs760320006 Chr.12: 55719091-55719091 on Build GRCh38
rs746988950 Chr.12: 55719223-55719223 on Build GRCh38
rs370578971 Chr.12: 55719260-55719260 on Build GRCh38
rs532103455 Chr.12: 55719176-55719176 on Build GRCh38
rs12303201 Chr.12: 55719261-55719261 on Build GRCh38
rs770460156 Chr.12: 55719151-55719151 on Build GRCh38
rs763722442 Chr.12: 55719241-55719241 on Build GRCh38
rs914537904 Chr.12: 55719117-55719117 on Build GRCh38
rs768071654 Chr.12: 55719142-55719142 on Build GRCh38
rs774380318 Chr.12: 55719079-55719079 on Build GRCh38
rs746231547 Chr.12: 55719050-55719050 on Build GRCh38
rs766841805 Chr.12: 55719264-55719264 on Build GRCh38
rs377155666 Chr.12: 55719107-55719107 on Build GRCh38
rs772139870 Chr.12: 55719214-55719214 on Build GRCh38
rs751812047 Chr.12: 55719101-55719101 on Build GRCh38
rs1032955783 Chr.12: 55719163-55719163 on Build GRCh38
rs781779515 Chr.12: 55719048-55719048 on Build GRCh38
rs775287246 Chr.12: 55719235-55719235 on Build GRCh38
rs779161990 Chr.12: 55719190-55719190 on Build GRCh38
rs374704154 Chr.12: 55719072-55719072 on Build GRCh38
rs771980486 Chr.12: 55719087-55719087 on Build GRCh38
rs565027871 Chr.12: 55719052-55719052 on Build GRCh38
rs762498891 Chr.12: 55719237-55719237 on Build GRCh38
rs143525225 Chr.12: 55719254-55719254 on Build GRCh38
rs759262563 Chr.12: 55719115-55719115 on Build GRCh38
rs776454252 Chr.12: 55719226-55719226 on Build GRCh38
rs765033001 Chr.12: 55719128-55719128 on Build GRCh38
rs759310054 Chr.12: 55719228-55719228 on Build GRCh38
rs748272798 Chr.12: 55719085-55719085 on Build GRCh38
rs142083410 Chr.12: 55719067-55719069 on Build GRCh38
rs752243542 Chr.12: 55719129-55719129 on Build GRCh38

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