Product Details

Primer Sequences

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Primer Chromosome Location

Chr.4: 122742569-122742812 on Build GRCh38 View in UCSC browser

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

BBS12

Entrez Gene ID

166379

Gene Name

Bardet-Biedl syndrome 12

Gene Aliases

C4orf24

UniGene

Hs.400698

Gene Chromosome Location

Chr.4: 122700437-122744943 on Build GRCh38

Transcripts

NM_001178007.1 NM_152618.2 XM_011531680.2 XM_017007831.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6166073	c.698A>T	p.H233L	Chr.4: 122742590-122742590 on Build GRCh38
5995386	c.677G>A	p.C226Y	Chr.4: 122742569-122742569 on Build GRCh38
1131281	c.697C>A	p.H233N	Chr.4: 122742589-122742589 on Build GRCh38
3945952	c.753A>G	p.G251G	Chr.4: 122742645-122742645 on Build GRCh38
7357325	c.748G>A	p.D250N	Chr.4: 122742640-122742640 on Build GRCh38
3008918	c.770C>T	p.T257I	Chr.4: 122742662-122742662 on Build GRCh38
3008920	c.786T>G	p.T262T	Chr.4: 122742678-122742678 on Build GRCh38
7448833	c.748G>T	p.D250Y	Chr.4: 122742640-122742640 on Build GRCh38
5060101	c.791G>T	p.R264I	Chr.4: 122742683-122742683 on Build GRCh38
402510	c.735G>T	p.G245G	Chr.4: 122742627-122742627 on Build GRCh38
1050730	c.916A>C	p.K306Q	Chr.4: 122742808-122742808 on Build GRCh38
7259444	c.779A>G	p.H260R	Chr.4: 122742671-122742671 on Build GRCh38
5447593	c.786T>A	p.T262T	Chr.4: 122742678-122742678 on Build GRCh38
1050729	c.718A>G	p.T240A	Chr.4: 122742610-122742610 on Build GRCh38
732741	c.859G>T	p.E287*	Chr.4: 122742751-122742751 on Build GRCh38
7267760	c.859G>A	p.E287K	Chr.4: 122742751-122742751 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs751181744	Chr.4: 122742787-122742787 on Build GRCh38
rs758191621	Chr.4: 122742637-122742637 on Build GRCh38
rs148604293	Chr.4: 122742677-122742677 on Build GRCh38
rs974173261	Chr.4: 122742681-122742681 on Build GRCh38
rs121918328	Chr.4: 122742757-122742757 on Build GRCh38
rs769485563	Chr.4: 122742682-122742682 on Build GRCh38
rs766149148	Chr.4: 122742774-122742774 on Build GRCh38
rs981575853	Chr.4: 122742771-122742771 on Build GRCh38
rs773045310	Chr.4: 122742683-122742683 on Build GRCh38
rs201227132	Chr.4: 122742715-122742715 on Build GRCh38
rs865920726	Chr.4: 122742670-122742671 on Build GRCh38
rs150040166	Chr.4: 122742679-122742679 on Build GRCh38
rs915644000	Chr.4: 122742701-122742701 on Build GRCh38
rs778226928	Chr.4: 122742626-122742626 on Build GRCh38
rs996402604	Chr.4: 122742733-122742733 on Build GRCh38
rs774510452	Chr.4: 122742702-122742702 on Build GRCh38
rs34094714	Chr.4: 122742723-122742724 on Build GRCh38
rs756441486	Chr.4: 122742622-122742622 on Build GRCh38
rs778624524	Chr.4: 122742679-122742680 on Build GRCh38
rs751682549	Chr.4: 122742600-122742600 on Build GRCh38
rs375150883	Chr.4: 122742727-122742727 on Build GRCh38
rs745504524	Chr.4: 122742750-122742752 on Build GRCh38
rs17006082	Chr.4: 122742606-122742606 on Build GRCh38
rs185341959	Chr.4: 122742657-122742657 on Build GRCh38
rs757672620	Chr.4: 122742765-122742765 on Build GRCh38
rs948467559	Chr.4: 122742716-122742716 on Build GRCh38
rs764693618	Chr.4: 122742746-122742746 on Build GRCh38
rs754242636	Chr.4: 122742628-122742628 on Build GRCh38
rs140537219	Chr.4: 122742611-122742611 on Build GRCh38
rs754293872	Chr.4: 122742755-122742755 on Build GRCh38
rs762709515	Chr.4: 122742690-122742690 on Build GRCh38
rs768162160	Chr.4: 122742668-122742668 on Build GRCh38
rs746565072	Chr.4: 122742667-122742667 on Build GRCh38
rs759567833	Chr.4: 122742705-122742705 on Build GRCh38
rs761302293	Chr.4: 122742734-122742734 on Build GRCh38
rs771195621	Chr.4: 122742694-122742694 on Build GRCh38

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