Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 72712165-72712390 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
3794386 c.189C>G p.I63M Chr.15: 72712252-72712252 on Build GRCh38
7283104 c.198T>C p.C66C Chr.15: 72712285-72712285 on Build GRCh38
3794385 c.165C>G p.I55M Chr.15: 72712252-72712252 on Build GRCh38
7283105 c.222T>C p.C74C Chr.15: 72712285-72712285 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs373166573 Chr.15: 72712225-72712225 on Build GRCh38
rs114434361 Chr.15: 72712267-72712267 on Build GRCh38
rs916245903 Chr.15: 72712266-72712266 on Build GRCh38
rs753421193 Chr.15: 72712229-72712229 on Build GRCh38
rs142692981 Chr.15: 72712295-72712295 on Build GRCh38
rs759249936 Chr.15: 72712235-72712235 on Build GRCh38
rs140002975 Chr.15: 72712200-72712200 on Build GRCh38
rs775928735 Chr.15: 72712293-72712296 on Build GRCh38
rs781493259 Chr.15: 72712281-72712281 on Build GRCh38
rs749578199 Chr.15: 72712301-72712301 on Build GRCh38
rs376143305 Chr.15: 72712310-72712310 on Build GRCh38
rs770423092 Chr.15: 72712319-72712319 on Build GRCh38
rs757342991 Chr.15: 72712280-72712280 on Build GRCh38
rs764835097 Chr.15: 72712344-72712344 on Build GRCh38
rs776174780 Chr.15: 72712335-72712335 on Build GRCh38
rs370969547 Chr.15: 72712214-72712214 on Build GRCh38
rs774954367 Chr.15: 72712218-72712218 on Build GRCh38
rs772574360 Chr.15: 72712262-72712262 on Build GRCh38
rs762602286 Chr.15: 72712354-72712354 on Build GRCh38
rs775779129 Chr.15: 72712193-72712193 on Build GRCh38
rs967919470 Chr.15: 72712204-72712207 on Build GRCh38
rs113994192 Chr.15: 72712242-72712242 on Build GRCh38
rs113994190 Chr.15: 72712308-72712308 on Build GRCh38
rs769088174 Chr.15: 72712306-72712306 on Build GRCh38
rs775236839 Chr.15: 72712347-72712347 on Build GRCh38
rs758321666 Chr.15: 72712256-72712256 on Build GRCh38
rs759165564 Chr.15: 72712337-72712337 on Build GRCh38
rs1027154786 Chr.15: 72712334-72712334 on Build GRCh38
rs138434735 Chr.15: 72712290-72712290 on Build GRCh38
rs750645085 Chr.15: 72712245-72712245 on Build GRCh38
rs183122832 Chr.15: 72712299-72712299 on Build GRCh38
rs777527843 Chr.15: 72712263-72712263 on Build GRCh38
rs763959481 Chr.15: 72712357-72712357 on Build GRCh38
rs943785660 Chr.15: 72712247-72712247 on Build GRCh38
rs886039802 Chr.15: 72712259-72712259 on Build GRCh38
rs760130348 Chr.15: 72712220-72712220 on Build GRCh38
rs994383634 Chr.15: 72712305-72712305 on Build GRCh38
rs888330584 Chr.15: 72712314-72712314 on Build GRCh38
rs937582703 Chr.15: 72712231-72712231 on Build GRCh38

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