Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 66523559-66523790 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
BBS1
Entrez Gene ID
582
Gene Name
Bardet-Biedl syndrome 1
Gene Aliases
BBS2L2
UniGene
Hs.502915
Gene Chromosome Location
Chr.11: 66510648-66533613 on Build GRCh38
Transcripts
NM_024649.4 XM_005273874.3

Gene Symbol
ZDHHC24
Entrez Gene ID
254359
Gene Name
zinc finger DHHC-type containing 24
Gene Aliases
-
UniGene
Hs.659933
Gene Chromosome Location
Chr.11: 66520625-66546200 on Build GRCh38
Transcripts
NM_024649.4 XM_005273874.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4665244 c.934C>T p.H312Y Chr.11: 66523559-66523559 on Build GRCh38
6265526 c.993G>T p.L331L Chr.11: 66523765-66523765 on Build GRCh38
5649873 c.1071G>A p.K357K Chr.11: 66523732-66523732 on Build GRCh38
5649872 c.960G>A p.K320K Chr.11: 66523732-66523732 on Build GRCh38
1246003 c.978G>A p.M326I Chr.11: 66523750-66523750 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs754022677 Chr.11: 66523693-66523693 on Build GRCh38
rs780784789 Chr.11: 66523583-66523583 on Build GRCh38
rs971605369 Chr.11: 66523755-66523755 on Build GRCh38
rs1032626950 Chr.11: 66523667-66523667 on Build GRCh38
rs745672331 Chr.11: 66523586-66523586 on Build GRCh38
rs896125678 Chr.11: 66523651-66523651 on Build GRCh38
rs368824329 Chr.11: 66523696-66523696 on Build GRCh38
rs905064850 Chr.11: 66523663-66523663 on Build GRCh38
rs766632086 Chr.11: 66523685-66523685 on Build GRCh38
rs755076424 Chr.11: 66523694-66523694 on Build GRCh38
rs200758309 Chr.11: 66523748-66523748 on Build GRCh38
rs781177816 Chr.11: 66523706-66523706 on Build GRCh38
rs768239720 Chr.11: 66523616-66523616 on Build GRCh38
rs759627328 Chr.11: 66523592-66523594 on Build GRCh38
rs767925430 Chr.11: 66523678-66523678 on Build GRCh38
rs553625102 Chr.11: 66523679-66523679 on Build GRCh38
rs755942584 Chr.11: 66523715-66523715 on Build GRCh38
rs1057516371 Chr.11: 66523753-66523753 on Build GRCh38
rs201437917 Chr.11: 66523603-66523603 on Build GRCh38
rs374822711 Chr.11: 66523609-66523609 on Build GRCh38
rs778802597 Chr.11: 66523695-66523695 on Build GRCh38
rs745700176 Chr.11: 66523712-66523712 on Build GRCh38
rs191924860 Chr.11: 66523627-66523627 on Build GRCh38
rs199986163 Chr.11: 66523746-66523746 on Build GRCh38
rs761009605 Chr.11: 66523681-66523681 on Build GRCh38
rs748899217 Chr.11: 66523726-66523726 on Build GRCh38
rs557602559 Chr.11: 66523654-66523654 on Build GRCh38
rs774942506 Chr.11: 66523620-66523620 on Build GRCh38
rs1000438556 Chr.11: 66523656-66523656 on Build GRCh38
rs768292767 Chr.11: 66523736-66523736 on Build GRCh38
rs772509403 Chr.11: 66523744-66523744 on Build GRCh38
rs773664520 Chr.11: 66523741-66523741 on Build GRCh38
rs1057516661 Chr.11: 66523723-66523723 on Build GRCh38
rs898584166 Chr.11: 66523677-66523677 on Build GRCh38
rs142243482 Chr.11: 66523753-66523753 on Build GRCh38
rs200350565 Chr.11: 66523705-66523705 on Build GRCh38
rs533592610 Chr.11: 66523669-66523669 on Build GRCh38
rs571201308 Chr.11: 66523659-66523659 on Build GRCh38
rs775261434 Chr.11: 66523608-66523608 on Build GRCh38
rs766684863 Chr.11: 66523754-66523754 on Build GRCh38
rs747686856 Chr.11: 66523743-66523743 on Build GRCh38

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