Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 55719420-55719930 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
6611790 c.304G>A p.E102K Chr.12: 55719535-55719535 on Build GRCh38
279177 c.295C>T p.R99W Chr.12: 55719526-55719526 on Build GRCh38
237048 c.268-8C>A p.? Chr.12: 55719491-55719491 on Build GRCh38
6611789 c.388G>A p.E130K Chr.12: 55719535-55719535 on Build GRCh38
1159441 c.313A>G p.M105V Chr.12: 55719544-55719544 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs552476056 Chr.12: 55719573-55719573 on Build GRCh38
rs376118765 Chr.12: 55719612-55719612 on Build GRCh38
rs374285734 Chr.12: 55719534-55719534 on Build GRCh38
rs929132035 Chr.12: 55719697-55719697 on Build GRCh38
rs537683923 Chr.12: 55719546-55719546 on Build GRCh38
rs1003100626 Chr.12: 55719673-55719673 on Build GRCh38
rs768407140 Chr.12: 55719544-55719544 on Build GRCh38
rs923497530 Chr.12: 55719807-55719807 on Build GRCh38
rs1032241196 Chr.12: 55719473-55719473 on Build GRCh38
rs183433624 Chr.12: 55719734-55719734 on Build GRCh38
rs956254263 Chr.12: 55719476-55719476 on Build GRCh38
rs138751402 Chr.12: 55719887-55719887 on Build GRCh38
rs368380422 Chr.12: 55719460-55719460 on Build GRCh38
rs1049375007 Chr.12: 55719699-55719699 on Build GRCh38
rs754730904 Chr.12: 55719611-55719611 on Build GRCh38
rs772678359 Chr.12: 55719654-55719654 on Build GRCh38
rs764403072 Chr.12: 55719554-55719554 on Build GRCh38
rs1002603694 Chr.12: 55719753-55719753 on Build GRCh38
rs780201011 Chr.12: 55719608-55719608 on Build GRCh38
rs201381183 Chr.12: 55719527-55719527 on Build GRCh38
rs775982603 Chr.12: 55719658-55719658 on Build GRCh38
rs533679420 Chr.12: 55719896-55719896 on Build GRCh38
rs750575216 Chr.12: 55719601-55719601 on Build GRCh38
rs775283462 Chr.12: 55719513-55719513 on Build GRCh38
rs1054206347 Chr.12: 55719832-55719832 on Build GRCh38
rs972820976 Chr.12: 55719625-55719625 on Build GRCh38
rs367697407 Chr.12: 55719548-55719548 on Build GRCh38
rs774706522 Chr.12: 55719655-55719655 on Build GRCh38
rs1036578126 Chr.12: 55719457-55719457 on Build GRCh38
rs759833804 Chr.12: 55719471-55719471 on Build GRCh38
rs765771856 Chr.12: 55719552-55719552 on Build GRCh38
rs758585341 Chr.12: 55719488-55719488 on Build GRCh38
rs765610644 Chr.12: 55719474-55719474 on Build GRCh38
rs145851924 Chr.12: 55719829-55719829 on Build GRCh38
rs763247156 Chr.12: 55719660-55719660 on Build GRCh38
rs138092877 Chr.12: 55719516-55719516 on Build GRCh38
rs747774096 Chr.12: 55719618-55719618 on Build GRCh38
rs891550958 Chr.12: 55719820-55719820 on Build GRCh38
rs984858983 Chr.12: 55719732-55719732 on Build GRCh38
rs1007133085 Chr.12: 55719894-55719894 on Build GRCh38
rs933468703 Chr.12: 55719504-55719504 on Build GRCh38
rs972347176 Chr.12: 55719746-55719746 on Build GRCh38
rs764312100 Chr.12: 55719572-55719572 on Build GRCh38
rs17117921 Chr.12: 55719701-55719701 on Build GRCh38
rs889518061 Chr.12: 55719523-55719523 on Build GRCh38
rs948655961 Chr.12: 55719730-55719730 on Build GRCh38
rs767528760 Chr.12: 55719591-55719591 on Build GRCh38
rs747189207 Chr.12: 55719614-55719614 on Build GRCh38
rs1052847550 Chr.12: 55719791-55719791 on Build GRCh38
rs771492578 Chr.12: 55719547-55719547 on Build GRCh38
rs763377183 Chr.12: 55719568-55719568 on Build GRCh38
rs910695326 Chr.12: 55719824-55719824 on Build GRCh38
rs912603987 Chr.12: 55719602-55719602 on Build GRCh38
rs1044077161 Chr.12: 55719743-55719743 on Build GRCh38
rs754301401 Chr.12: 55719461-55719461 on Build GRCh38
rs111714623 Chr.12: 55719762-55719762 on Build GRCh38
rs749088001 Chr.12: 55719610-55719610 on Build GRCh38
rs923473162 Chr.12: 55719480-55719480 on Build GRCh38
rs766902696 Chr.12: 55719456-55719456 on Build GRCh38
rs971231571 Chr.12: 55719626-55719626 on Build GRCh38
rs771570557 Chr.12: 55719650-55719650 on Build GRCh38
rs113032103 Chr.12: 55719838-55719838 on Build GRCh38
rs772445471 Chr.12: 55719545-55719545 on Build GRCh38
rs752876626 Chr.12: 55719479-55719479 on Build GRCh38
rs769676464 Chr.12: 55719530-55719530 on Build GRCh38
rs756101163 Chr.12: 55719606-55719606 on Build GRCh38
rs757291104 Chr.12: 55719495-55719495 on Build GRCh38
rs777904559 Chr.12: 55719490-55719490 on Build GRCh38
rs954294683 Chr.12: 55719854-55719854 on Build GRCh38
rs1011713248 Chr.12: 55719822-55719822 on Build GRCh38
rs745588307 Chr.12: 55719737-55719738 on Build GRCh38
rs574838711 Chr.12: 55719744-55719744 on Build GRCh38
rs771900798 Chr.12: 55719479-55719481 on Build GRCh38
rs892845318 Chr.12: 55719859-55719859 on Build GRCh38
rs570974758 Chr.12: 55719585-55719585 on Build GRCh38

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