Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 32743619-32743848 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
PAXBP1
Entrez Gene ID
94104
Gene Name
PAX3 and PAX7 binding protein 1
Gene Aliases
BM020, C21orf66, FSAP105, GCFC, GCFC1
UniGene
Hs.644004
Gene Chromosome Location
Chr.21: 32733899-32771858 on Build GRCh38
Transcripts
NM_013329.3 NM_016631.3 NR_027873.1 XM_006724066.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5900424 c.2222G>A p.R741K Chr.21: 32743723-32743723 on Build GRCh38
4955498 c.2246T>G p.F749C Chr.21: 32743699-32743699 on Build GRCh38
4642488 c.2193A>G p.V731V Chr.21: 32743752-32743752 on Build GRCh38
123331 c.2239G>A p.D747N Chr.21: 32743706-32743706 on Build GRCh38
7109232 c.2239G>C p.D747H Chr.21: 32743706-32743706 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs772016036 Chr.21: 32743791-32743791 on Build GRCh38
rs529422772 Chr.21: 32743786-32743786 on Build GRCh38
rs562226036 Chr.21: 32743731-32743731 on Build GRCh38
rs749610098 Chr.21: 32743745-32743745 on Build GRCh38
rs749964418 Chr.21: 32743662-32743662 on Build GRCh38
rs778649059 Chr.21: 32743661-32743661 on Build GRCh38
rs955807224 Chr.21: 32743810-32743810 on Build GRCh38
rs759847090 Chr.21: 32743702-32743702 on Build GRCh38
rs757832473 Chr.21: 32743669-32743669 on Build GRCh38
rs1025827809 Chr.21: 32743686-32743686 on Build GRCh38
rs779823211 Chr.21: 32743682-32743682 on Build GRCh38
rs757292590 Chr.21: 32743645-32743645 on Build GRCh38
rs775908438 Chr.21: 32743799-32743799 on Build GRCh38
rs746631337 Chr.21: 32743705-32743705 on Build GRCh38
rs778129533 Chr.21: 32743742-32743742 on Build GRCh38
rs776936292 Chr.21: 32743701-32743701 on Build GRCh38
rs771470726 Chr.21: 32743774-32743774 on Build GRCh38
rs990275514 Chr.21: 32743811-32743811 on Build GRCh38

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