Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 73686507-73686780 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
WBSCR22
Entrez Gene ID
114049
Gene Name
Williams-Beuren syndrome chromosome region 22
Gene Aliases
HASJ4442, HUSSY-3, MERM1, PP3381, WBMT
UniGene
Hs.647063
Gene Chromosome Location
Chr.7: 73683568-73698221 on Build GRCh38
Transcripts
NM_001202560.2 NM_017528.4 NR_037776.2 NR_045512.1 XM_006715847.1 XM_011515778.1 XM_011515779.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6471995 c.223A>G p.N75D Chr.7: 73686703-73686703 on Build GRCh38
453354 c.91C>A p.R31R Chr.7: 73686640-73686640 on Build GRCh38
3778565 c.203A>G p.E68G Chr.7: 73686683-73686683 on Build GRCh38
6471993 c.222G>A p.E74E Chr.7: 73686702-73686702 on Build GRCh38
1673210 c.154A>C p.N52H Chr.7: 73686703-73686703 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs575071708 Chr.7: 73686558-73686558 on Build GRCh38
rs782663974 Chr.7: 73686619-73686619 on Build GRCh38
rs782097690 Chr.7: 73686638-73686638 on Build GRCh38
rs782044414 Chr.7: 73686648-73686648 on Build GRCh38
rs782303046 Chr.7: 73686632-73686632 on Build GRCh38
rs565746272 Chr.7: 73686558-73686559 on Build GRCh38
rs370906291 Chr.7: 73686609-73686609 on Build GRCh38
rs782565438 Chr.7: 73686755-73686755 on Build GRCh38
rs142695767 Chr.7: 73686615-73686615 on Build GRCh38
rs142852600 Chr.7: 73686645-73686645 on Build GRCh38
rs563278088 Chr.7: 73686583-73686583 on Build GRCh38
rs186149084 Chr.7: 73686536-73686536 on Build GRCh38
rs781886224 Chr.7: 73686740-73686740 on Build GRCh38
rs1041658371 Chr.7: 73686675-73686675 on Build GRCh38
rs782812578 Chr.7: 73686729-73686729 on Build GRCh38
rs782248139 Chr.7: 73686614-73686614 on Build GRCh38
rs372615879 Chr.7: 73686691-73686691 on Build GRCh38
rs375122848 Chr.7: 73686610-73686610 on Build GRCh38
rs782733653 Chr.7: 73686596-73686596 on Build GRCh38
rs184493378 Chr.7: 73686572-73686572 on Build GRCh38
rs564205020 Chr.7: 73686705-73686705 on Build GRCh38
rs542469636 Chr.7: 73686561-73686561 on Build GRCh38
rs781871308 Chr.7: 73686696-73686696 on Build GRCh38
rs781945616 Chr.7: 73686640-73686640 on Build GRCh38
rs782157986 Chr.7: 73686650-73686650 on Build GRCh38
rs782204487 Chr.7: 73686642-73686642 on Build GRCh38
rs782475673 Chr.7: 73686592-73686592 on Build GRCh38
rs782099109 Chr.7: 73686684-73686684 on Build GRCh38
rs558707798 Chr.7: 73686534-73686534 on Build GRCh38
rs200068608 Chr.7: 73686744-73686744 on Build GRCh38
rs782513268 Chr.7: 73686704-73686704 on Build GRCh38
rs782720715 Chr.7: 73686673-73686673 on Build GRCh38
rs937404999 Chr.7: 73686567-73686567 on Build GRCh38
rs151200832 Chr.7: 73686674-73686674 on Build GRCh38
rs781787121 Chr.7: 73686608-73686608 on Build GRCh38

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