Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 121825590-121826112 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
BBS7
Entrez Gene ID
55212
Gene Name
Bardet-Biedl syndrome 7
Gene Aliases
BBS2L1
UniGene
Hs.591694
Gene Chromosome Location
Chr.4: 121824329-121870520 on Build GRCh38
Transcripts
NM_176824.2 XM_005263106.3 XM_011532079.2 XM_011532080.2 XM_011532081.2 XM_017008357.1 XM_017008358.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5367669 c.2071_2072insA p.T691fs*2 Chr.4: 121825936-121825937 on Build GRCh38
5433427 c.2112C>T p.D704D Chr.4: 121825896-121825896 on Build GRCh38
177283 c.2133C>A p.F711L Chr.4: 121825875-121825875 on Build GRCh38
6610168 c.2061C>T p.T687T Chr.4: 121825947-121825947 on Build GRCh38
1050582 c.2119G>A p.A707T Chr.4: 121825889-121825889 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs990503504 Chr.4: 121825667-121825668 on Build GRCh38
rs532679737 Chr.4: 121825622-121825622 on Build GRCh38
rs752107050 Chr.4: 121825928-121825928 on Build GRCh38
rs768740320 Chr.4: 121826043-121826043 on Build GRCh38
rs753884144 Chr.4: 121825962-121825962 on Build GRCh38
rs934845806 Chr.4: 121825854-121825854 on Build GRCh38
rs377643507 Chr.4: 121825938-121825938 on Build GRCh38
rs201052302 Chr.4: 121826027-121826027 on Build GRCh38
rs755954478 Chr.4: 121825809-121825809 on Build GRCh38
rs774208184 Chr.4: 121825886-121825886 on Build GRCh38
rs746139675 Chr.4: 121825858-121825858 on Build GRCh38
rs548020763 Chr.4: 121825987-121825987 on Build GRCh38
rs759496562 Chr.4: 121826048-121826048 on Build GRCh38
rs960510621 Chr.4: 121826081-121826081 on Build GRCh38
rs1004731038 Chr.4: 121826025-121826025 on Build GRCh38
rs777882672 Chr.4: 121825819-121825819 on Build GRCh38
rs767033569 Chr.4: 121825927-121825927 on Build GRCh38
rs111899718 Chr.4: 121825968-121825968 on Build GRCh38
rs762111748 Chr.4: 121825883-121825883 on Build GRCh38
rs371449601 Chr.4: 121825871-121825871 on Build GRCh38
rs924170108 Chr.4: 121825751-121825751 on Build GRCh38
rs186181139 Chr.4: 121825690-121825690 on Build GRCh38
rs942747487 Chr.4: 121825944-121825944 on Build GRCh38
rs888323978 Chr.4: 121826056-121826056 on Build GRCh38
rs199782217 Chr.4: 121825872-121825872 on Build GRCh38
rs1027779461 Chr.4: 121825951-121825951 on Build GRCh38
rs1024378728 Chr.4: 121825666-121825666 on Build GRCh38
rs886484360 Chr.4: 121825994-121825994 on Build GRCh38
rs760833157 Chr.4: 121825869-121825869 on Build GRCh38
rs775478831 Chr.4: 121825867-121825867 on Build GRCh38
rs946360068 Chr.4: 121825738-121825738 on Build GRCh38
rs929940629 Chr.4: 121826004-121826004 on Build GRCh38
rs780357770 Chr.4: 121826026-121826026 on Build GRCh38
rs779259401 Chr.4: 121825842-121825842 on Build GRCh38
rs770862166 Chr.4: 121825839-121825839 on Build GRCh38
rs978747680 Chr.4: 121825720-121825720 on Build GRCh38
rs746997724 Chr.4: 121826035-121826035 on Build GRCh38
rs375825705 Chr.4: 121825900-121825900 on Build GRCh38
rs923682597 Chr.4: 121825770-121825770 on Build GRCh38
rs992468658 Chr.4: 121825628-121825628 on Build GRCh38
rs370656021 Chr.4: 121825945-121825945 on Build GRCh38
rs749023800 Chr.4: 121825830-121825830 on Build GRCh38
rs764064252 Chr.4: 121825948-121825948 on Build GRCh38
rs200470633 Chr.4: 121825862-121825862 on Build GRCh38
rs534408910 Chr.4: 121825966-121825966 on Build GRCh38
rs971027891 Chr.4: 121825689-121825689 on Build GRCh38
rs1034826226 Chr.4: 121826037-121826037 on Build GRCh38
rs765649058 Chr.4: 121825894-121825894 on Build GRCh38
rs757805445 Chr.4: 121825904-121825905 on Build GRCh38
rs568157418 Chr.4: 121826017-121826017 on Build GRCh38
rs759152556 Chr.4: 121825926-121825926 on Build GRCh38

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