Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 72695036-72695285 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
4056702 c.26G>T p.R9I Chr.15: 72695178-72695178 on Build GRCh38
4056703 c.50G>T p.R17I Chr.15: 72695178-72695178 on Build GRCh38
5527262 c.37C>T p.P13S Chr.15: 72695189-72695189 on Build GRCh38
701298 c.59A>T p.K20I Chr.15: 72695211-72695211 on Build GRCh38
5527263 c.61C>T p.P21S Chr.15: 72695189-72695189 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs764379682 Chr.15: 72695193-72695193 on Build GRCh38
rs997854847 Chr.15: 72695116-72695119 on Build GRCh38
rs766665064 Chr.15: 72695230-72695230 on Build GRCh38
rs750642149 Chr.15: 72695223-72695223 on Build GRCh38
rs113994181 Chr.15: 72695194-72695194 on Build GRCh38
rs914558243 Chr.15: 72695096-72695096 on Build GRCh38
rs932628333 Chr.15: 72695100-72695100 on Build GRCh38
rs985508535 Chr.15: 72695106-72695106 on Build GRCh38
rs746652913 Chr.15: 72695131-72695131 on Build GRCh38
rs929043364 Chr.15: 72695198-72695198 on Build GRCh38
rs372573159 Chr.15: 72695129-72695129 on Build GRCh38
rs916749492 Chr.15: 72695213-72695213 on Build GRCh38
rs113994184 Chr.15: 72695180-72695181 on Build GRCh38
rs267604309 Chr.15: 72695215-72695215 on Build GRCh38
rs4777527 Chr.15: 72695247-72695247 on Build GRCh38
rs887557999 Chr.15: 72695237-72695237 on Build GRCh38
rs944665794 Chr.15: 72695144-72695144 on Build GRCh38
rs201697991 Chr.15: 72695152-72695152 on Build GRCh38
rs1040144478 Chr.15: 72695183-72695183 on Build GRCh38
rs576211149 Chr.15: 72695254-72695254 on Build GRCh38
rs754328622 Chr.15: 72695244-72695244 on Build GRCh38
rs775955872 Chr.15: 72695217-72695217 on Build GRCh38
rs761050940 Chr.15: 72695227-72695227 on Build GRCh38
rs727503820 Chr.15: 72695216-72695216 on Build GRCh38
rs371162394 Chr.15: 72695179-72695179 on Build GRCh38
rs140934493 Chr.15: 72695159-72695159 on Build GRCh38
rs763681424 Chr.15: 72695252-72695252 on Build GRCh38
rs768062953 Chr.15: 72695079-72695079 on Build GRCh38
rs879108140 Chr.15: 72695231-72695231 on Build GRCh38
rs745516764 Chr.15: 72695245-72695246 on Build GRCh38
rs147669779 Chr.15: 72695087-72695087 on Build GRCh38
rs990984115 Chr.15: 72695191-72695191 on Build GRCh38
rs777425165 Chr.15: 72695130-72695130 on Build GRCh38
rs780823570 Chr.15: 72695166-72695166 on Build GRCh38
rs768719848 Chr.15: 72695208-72695208 on Build GRCh38
rs183278135 Chr.15: 72695097-72695097 on Build GRCh38
rs542595190 Chr.15: 72695192-72695192 on Build GRCh38
rs151164191 Chr.15: 72695189-72695189 on Build GRCh38
rs751160262 Chr.15: 72695253-72695253 on Build GRCh38

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