Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.4: 122742059-122742310 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

Cosmic ID	Mutation	AA	Transcript Location
7357326	c.316G>T	p.G106C	Chr.4: 122742208-122742208 on Build GRCh38
5045887	c.214G>T	p.E72*	Chr.4: 122742106-122742106 on Build GRCh38
7107463	c.285G>C	p.W95C	Chr.4: 122742177-122742177 on Build GRCh38
73812	c.370A>T	p.S124C	Chr.4: 122742262-122742262 on Build GRCh38
6610128	c.386C>A	p.S129Y	Chr.4: 122742278-122742278 on Build GRCh38
732742	c.319G>T	p.V107F	Chr.4: 122742211-122742211 on Build GRCh38
4488231	c.329C>T	p.S110F	Chr.4: 122742221-122742221 on Build GRCh38
3599792	c.262C>T	p.L88F	Chr.4: 122742154-122742154 on Build GRCh38
1186646	c.368G>T	p.C123F	Chr.4: 122742260-122742260 on Build GRCh38
7163036	c.210C>T	p.L70L	Chr.4: 122742102-122742102 on Build GRCh38
4642840	c.228A>C	p.A76A	Chr.4: 122742120-122742120 on Build GRCh38
3599793	c.330C>T	p.S110S	Chr.4: 122742222-122742222 on Build GRCh38
1660742	c.331A>C	p.I111L	Chr.4: 122742223-122742223 on Build GRCh38
6610134	c.296T>A	p.V99D	Chr.4: 122742188-122742188 on Build GRCh38
1694949	c.310C>T	p.H104Y	Chr.4: 122742202-122742202 on Build GRCh38
1694950	c.341C>T	p.S114L	Chr.4: 122742233-122742233 on Build GRCh38
1671266	c.181G>A	p.D61N	Chr.4: 122742073-122742073 on Build GRCh38
5466048	c.263T>G	p.L88R	Chr.4: 122742155-122742155 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs201693990	Chr.4: 122742154-122742154 on Build GRCh38
rs375439566	Chr.4: 122742274-122742274 on Build GRCh38
rs56320045	Chr.4: 122742263-122742263 on Build GRCh38
rs778171614	Chr.4: 122742103-122742103 on Build GRCh38
rs1052836009	Chr.4: 122742093-122742093 on Build GRCh38
rs759091753	Chr.4: 122742208-122742208 on Build GRCh38
rs755940610	Chr.4: 122742097-122742097 on Build GRCh38
rs758963348	Chr.4: 122742121-122742121 on Build GRCh38
rs767601166	Chr.4: 122742228-122742228 on Build GRCh38
rs768973035	Chr.4: 122742133-122742133 on Build GRCh38
rs763730747	Chr.4: 122742261-122742261 on Build GRCh38
rs770609788	Chr.4: 122742182-122742182 on Build GRCh38
rs934909698	Chr.4: 122742268-122742268 on Build GRCh38
rs309369	Chr.4: 122742270-122742270 on Build GRCh38
rs144179606	Chr.4: 122742236-122742236 on Build GRCh38
rs772942987	Chr.4: 122742135-122742135 on Build GRCh38
rs973844350	Chr.4: 122742166-122742166 on Build GRCh38
rs767546051	Chr.4: 122742092-122742092 on Build GRCh38
rs587777801	Chr.4: 122742227-122742229 on Build GRCh38
rs752586913	Chr.4: 122742094-122742094 on Build GRCh38
rs773788808	Chr.4: 122742188-122742188 on Build GRCh38
rs180723721	Chr.4: 122742223-122742223 on Build GRCh38
rs745957664	Chr.4: 122742119-122742119 on Build GRCh38
rs778792181	Chr.4: 122742114-122742114 on Build GRCh38
rs915677674	Chr.4: 122742203-122742203 on Build GRCh38
rs754104512	Chr.4: 122742269-122742269 on Build GRCh38
rs373273487	Chr.4: 122742129-122742129 on Build GRCh38
rs77731085	Chr.4: 122742247-122742247 on Build GRCh38
rs143960329	Chr.4: 122742104-122742104 on Build GRCh38
rs746271266	Chr.4: 122742155-122742155 on Build GRCh38
rs151344630	Chr.4: 122742215-122742215 on Build GRCh38
rs528175399	Chr.4: 122742226-122742226 on Build GRCh38
rs907426686	Chr.4: 122742258-122742258 on Build GRCh38

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