Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 90749900-90750038 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
7357561 c.690G>A p.W230* Chr.15: 90749958-90749958 on Build GRCh38
434540 c.685G>A p.E229K Chr.15: 90749953-90749953 on Build GRCh38
5948151 c.770C>T p.S257F Chr.15: 90750038-90750038 on Build GRCh38
6935487 c.755C>T p.A252V Chr.15: 90750023-90750023 on Build GRCh38
6950458 c.675G>T p.K225N Chr.15: 90749943-90749943 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs751699247 Chr.15: 90749984-90749984 on Build GRCh38
rs765696829 Chr.15: 90749971-90749971 on Build GRCh38
rs200000438 Chr.15: 90749996-90749996 on Build GRCh38
rs878853555 Chr.15: 90749968-90749968 on Build GRCh38
rs761533210 Chr.15: 90749935-90749935 on Build GRCh38
rs201722470 Chr.15: 90749995-90749995 on Build GRCh38
rs190228320 Chr.15: 90749923-90749923 on Build GRCh38
rs757324067 Chr.15: 90749987-90749987 on Build GRCh38
rs749238300 Chr.15: 90749991-90749991 on Build GRCh38
rs771809777 Chr.15: 90749999-90749999 on Build GRCh38
rs200897029 Chr.15: 90749990-90749990 on Build GRCh38
rs767037216 Chr.15: 90749959-90749959 on Build GRCh38
rs760084762 Chr.15: 90749956-90749956 on Build GRCh38
rs918752814 Chr.15: 90749938-90749938 on Build GRCh38
rs200756519 Chr.15: 90749983-90749983 on Build GRCh38
rs558524280 Chr.15: 90750010-90750010 on Build GRCh38
rs200125311 Chr.15: 90749967-90749967 on Build GRCh38
rs768513523 Chr.15: 90749992-90749992 on Build GRCh38
rs1057517229 Chr.15: 90749930-90749933 on Build GRCh38
rs767175929 Chr.15: 90749939-90749941 on Build GRCh38
rs752961612 Chr.15: 90749979-90749979 on Build GRCh38
rs770111029 Chr.15: 90749939-90749939 on Build GRCh38
rs771586371 Chr.15: 90749937-90749937 on Build GRCh38
rs774075577 Chr.15: 90749932-90749932 on Build GRCh38
rs772711706 Chr.15: 90750001-90750001 on Build GRCh38
rs201845548 Chr.15: 90749964-90749964 on Build GRCh38

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