Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 90749990-90750144 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
BLM
Entrez Gene ID
641
Gene Name
Bloom syndrome RecQ like helicase
Gene Aliases
BS, RECQ2, RECQL2, RECQL3
UniGene
Hs.725208
Gene Chromosome Location
Chr.15: 90717327-90815462 on Build GRCh38
Transcripts
NM_000057.3 NM_001287246.1 NM_001287247.1 NM_001287248.1 XM_011521881.2 XM_011521882.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
966525 c.723C>T p.G241G Chr.15: 90749991-90749991 on Build GRCh38
4775416 c.799+7A>G p.? Chr.15: 90750074-90750074 on Build GRCh38
5948151 c.770C>T p.S257F Chr.15: 90750038-90750038 on Build GRCh38
3817060 c.793G>C p.E265Q Chr.15: 90750061-90750061 on Build GRCh38
6935487 c.755C>T p.A252V Chr.15: 90750023-90750023 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs374025347 Chr.15: 90750101-90750101 on Build GRCh38
rs765788538 Chr.15: 90750036-90750036 on Build GRCh38
rs751718191 Chr.15: 90750061-90750061 on Build GRCh38
rs754931697 Chr.15: 90750099-90750099 on Build GRCh38
rs763166861 Chr.15: 90750050-90750050 on Build GRCh38
rs55763079 Chr.15: 90750048-90750048 on Build GRCh38
rs368181265 Chr.15: 90750105-90750105 on Build GRCh38
rs370608122 Chr.15: 90750083-90750083 on Build GRCh38
rs1013440993 Chr.15: 90750089-90750089 on Build GRCh38
rs1043718482 Chr.15: 90750012-90750012 on Build GRCh38
rs775168015 Chr.15: 90750019-90750020 on Build GRCh38
rs188126287 Chr.15: 90750084-90750084 on Build GRCh38
rs367543013 Chr.15: 90750040-90750041 on Build GRCh38
rs542770299 Chr.15: 90750096-90750096 on Build GRCh38
rs181892828 Chr.15: 90750028-90750028 on Build GRCh38
rs777542906 Chr.15: 90750114-90750114 on Build GRCh38
rs34580216 Chr.15: 90750027-90750027 on Build GRCh38
rs764442592 Chr.15: 90750060-90750060 on Build GRCh38
rs558524280 Chr.15: 90750010-90750010 on Build GRCh38
rs907073579 Chr.15: 90750062-90750062 on Build GRCh38
rs763195731 Chr.15: 90750058-90750058 on Build GRCh38
rs758128613 Chr.15: 90750112-90750112 on Build GRCh38

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