Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 72716572-72717039 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
BBS4
Entrez Gene ID
585
Gene Name
Bardet-Biedl syndrome 4
Gene Aliases
-
UniGene
Hs.208681
Gene Chromosome Location
Chr.15: 72686179-72738476 on Build GRCh38
Transcripts
NM_001252678.1 NM_001320665.1 NM_033028.4 NR_045565.1 NR_045566.1 XM_011521848.1 XM_011521849.1 XM_011521851.1 XM_017022450.1 XM_017022451.1 XM_017022452.1 XM_017022453.1 XM_017022454.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6394220 c.368T>C p.V123A Chr.15: 72716813-72716813 on Build GRCh38
6555062 c.342G>T p.L114F Chr.15: 72716787-72716787 on Build GRCh38
6394221 c.392T>C p.V131A Chr.15: 72716813-72716813 on Build GRCh38
6555063 c.366G>T p.L122F Chr.15: 72716787-72716787 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs973122516 Chr.15: 72716823-72716823 on Build GRCh38
rs758197837 Chr.15: 72716839-72716851 on Build GRCh38
rs752000709 Chr.15: 72716821-72716821 on Build GRCh38
rs771990220 Chr.15: 72716868-72716868 on Build GRCh38
rs1041926947 Chr.15: 72717007-72717007 on Build GRCh38
rs750258633 Chr.15: 72716783-72716783 on Build GRCh38
rs760730921 Chr.15: 72716760-72716760 on Build GRCh38
rs531198222 Chr.15: 72716980-72716980 on Build GRCh38
rs770941196 Chr.15: 72716895-72716895 on Build GRCh38
rs926942882 Chr.15: 72716856-72716856 on Build GRCh38
rs549530801 Chr.15: 72717001-72717001 on Build GRCh38
rs954508179 Chr.15: 72716718-72716718 on Build GRCh38
rs754917797 Chr.15: 72716882-72716883 on Build GRCh38
rs570259064 Chr.15: 72716881-72716881 on Build GRCh38
rs904621170 Chr.15: 72716661-72716661 on Build GRCh38
rs993448394 Chr.15: 72716902-72716902 on Build GRCh38
rs377167579 Chr.15: 72716880-72716880 on Build GRCh38
rs559557495 Chr.15: 72716756-72716756 on Build GRCh38
rs779404065 Chr.15: 72716835-72716835 on Build GRCh38
rs758701746 Chr.15: 72716811-72716811 on Build GRCh38
rs752934238 Chr.15: 72716799-72716799 on Build GRCh38
rs1041789429 Chr.15: 72716640-72716640 on Build GRCh38
rs773217859 Chr.15: 72716758-72716758 on Build GRCh38
rs1000175013 Chr.15: 72716663-72716663 on Build GRCh38
rs778651927 Chr.15: 72716857-72716857 on Build GRCh38
rs761652630 Chr.15: 72716742-72716742 on Build GRCh38
rs905352729 Chr.15: 72716714-72716714 on Build GRCh38
rs996489359 Chr.15: 72716710-72716710 on Build GRCh38
rs911785836 Chr.15: 72716987-72716987 on Build GRCh38
rs561978341 Chr.15: 72716615-72716615 on Build GRCh38
rs369781535 Chr.15: 72716775-72716775 on Build GRCh38
rs765399591 Chr.15: 72716794-72716794 on Build GRCh38
rs374525425 Chr.15: 72716776-72716776 on Build GRCh38
rs775777915 Chr.15: 72716619-72716619 on Build GRCh38
rs892499927 Chr.15: 72716705-72716705 on Build GRCh38
rs532492188 Chr.15: 72716653-72716653 on Build GRCh38
rs373311416 Chr.15: 72716890-72716890 on Build GRCh38
rs541105946 Chr.15: 72716713-72716713 on Build GRCh38
rs766268775 Chr.15: 72716852-72716853 on Build GRCh38
rs751505498 Chr.15: 72716861-72716867 on Build GRCh38
rs773197439 Chr.15: 72716872-72716872 on Build GRCh38
rs917514949 Chr.15: 72716904-72716904 on Build GRCh38
rs768304898 Chr.15: 72716848-72716848 on Build GRCh38
rs748795500 Chr.15: 72716838-72716838 on Build GRCh38
rs141903251 Chr.15: 72716817-72716817 on Build GRCh38
rs760909426 Chr.15: 72716782-72716782 on Build GRCh38
rs1018674166 Chr.15: 72716671-72716671 on Build GRCh38
rs377085371 Chr.15: 72716766-72716766 on Build GRCh38
rs899861140 Chr.15: 72716690-72716690 on Build GRCh38
rs375170079 Chr.15: 72716830-72716830 on Build GRCh38
rs530223854 Chr.15: 72716824-72716824 on Build GRCh38
rs150461496 Chr.15: 72716604-72716604 on Build GRCh38
rs774182300 Chr.15: 72716733-72716733 on Build GRCh38
rs895969005 Chr.15: 72716612-72716612 on Build GRCh38
rs80334351 Chr.15: 72716867-72716867 on Build GRCh38

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