Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 27449082-27449355 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
IFT172
Entrez Gene ID
26160
Gene Name
intraflagellar transport 172
Gene Aliases
BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim
UniGene
Hs.127401
Gene Chromosome Location
Chr.2: 27444373-27489819 on Build GRCh38
Transcripts
NM_015662.2 XM_005264254.1 XM_006711986.3 XM_006711987.1 XM_011532757.2 XM_011532759.2 XM_011532760.2 XM_017003790.1 XM_017003791.1 XM_017003793.1 XM_017003794.1 XM_017003795.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4691855 c.4305C>G p.T1435T Chr.2: 27449300-27449300 on Build GRCh38
7198458 c.4311G>A p.Q1437Q Chr.2: 27449294-27449294 on Build GRCh38
356897 c.4257C>T p.D1419D Chr.2: 27449348-27449348 on Build GRCh38
1019700 c.4304C>T p.T1435I Chr.2: 27449301-27449301 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs147850047 Chr.2: 27449333-27449333 on Build GRCh38
rs762924993 Chr.2: 27449285-27449285 on Build GRCh38
rs1016228098 Chr.2: 27449188-27449188 on Build GRCh38
rs760361183 Chr.2: 27449319-27449319 on Build GRCh38
rs187852490 Chr.2: 27449131-27449131 on Build GRCh38
rs997623808 Chr.2: 27449117-27449118 on Build GRCh38
rs550719226 Chr.2: 27449135-27449135 on Build GRCh38
rs927159895 Chr.2: 27449253-27449253 on Build GRCh38
rs139560074 Chr.2: 27449331-27449331 on Build GRCh38
rs200053045 Chr.2: 27449248-27449248 on Build GRCh38
rs199502476 Chr.2: 27449321-27449321 on Build GRCh38
rs568825505 Chr.2: 27449151-27449151 on Build GRCh38
rs979980574 Chr.2: 27449238-27449238 on Build GRCh38
rs767073364 Chr.2: 27449300-27449300 on Build GRCh38
rs773808458 Chr.2: 27449295-27449295 on Build GRCh38
rs995465374 Chr.2: 27449274-27449274 on Build GRCh38
rs1016223182 Chr.2: 27449149-27449149 on Build GRCh38
rs756624999 Chr.2: 27449289-27449289 on Build GRCh38
rs992616530 Chr.2: 27449290-27449290 on Build GRCh38
rs963290901 Chr.2: 27449190-27449190 on Build GRCh38
rs551376007 Chr.2: 27449315-27449315 on Build GRCh38
rs532966251 Chr.2: 27449185-27449185 on Build GRCh38
rs898496819 Chr.2: 27449242-27449242 on Build GRCh38
rs749087926 Chr.2: 27449246-27449246 on Build GRCh38
rs765403061 Chr.2: 27449281-27449282 on Build GRCh38
rs369539023 Chr.2: 27449134-27449134 on Build GRCh38
rs750779087 Chr.2: 27449328-27449328 on Build GRCh38
rs772919880 Chr.2: 27449273-27449273 on Build GRCh38
rs546705739 Chr.2: 27449272-27449272 on Build GRCh38
rs377646246 Chr.2: 27449298-27449298 on Build GRCh38
rs1004878257 Chr.2: 27449169-27449169 on Build GRCh38

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