Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 27443959-27444457 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 NM_001168364.1 NM_001321325.1 NM_173853.3

Gene Symbol
KRTCAP3
Entrez Gene ID
200634
Gene Name
keratinocyte associated protein 3
Gene Aliases
KCP3
UniGene
Hs.59509
Gene Chromosome Location
Chr.2: 27442366-27446481 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 NM_001168364.1 NM_001321325.1 NM_173853.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1019696 c.697C>T p.R233W Chr.2: 27444030-27444030 on Build GRCh38
4555926 c.672G>T p.Q224H Chr.2: 27444005-27444005 on Build GRCh38
3972203 c.716G>A p.W239* Chr.2: 27444049-27444049 on Build GRCh38
442747 c.5247G>T p.Q1749H Chr.2: 27444435-27444435 on Build GRCh38
3798917 c.627G>A p.M209I Chr.2: 27443960-27443960 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs753906342 Chr.2: 27444102-27444102 on Build GRCh38
rs201844602 Chr.2: 27444014-27444014 on Build GRCh38
rs921327457 Chr.2: 27444249-27444249 on Build GRCh38
rs764167859 Chr.2: 27444252-27444252 on Build GRCh38
rs774639877 Chr.2: 27444045-27444045 on Build GRCh38
rs752693869 Chr.2: 27444178-27444178 on Build GRCh38
rs973701706 Chr.2: 27444006-27444006 on Build GRCh38
rs560284264 Chr.2: 27444278-27444278 on Build GRCh38
rs755372600 Chr.2: 27444002-27444002 on Build GRCh38
rs946602184 Chr.2: 27444150-27444150 on Build GRCh38
rs781247736 Chr.2: 27444033-27444034 on Build GRCh38
rs772224250 Chr.2: 27444420-27444420 on Build GRCh38
rs995333428 Chr.2: 27444358-27444360 on Build GRCh38
rs756880986 Chr.2: 27443992-27443992 on Build GRCh38
rs10208616 Chr.2: 27444241-27444241 on Build GRCh38
rs1054513596 Chr.2: 27444060-27444060 on Build GRCh38
rs778459750 Chr.2: 27444101-27444101 on Build GRCh38
rs939934759 Chr.2: 27444311-27444311 on Build GRCh38
rs764067258 Chr.2: 27444074-27444074 on Build GRCh38
rs533918778 Chr.2: 27444189-27444189 on Build GRCh38
rs911685067 Chr.2: 27444082-27444082 on Build GRCh38
rs745427537 Chr.2: 27444317-27444317 on Build GRCh38
rs746100848 Chr.2: 27444412-27444412 on Build GRCh38
rs544892369 Chr.2: 27444216-27444216 on Build GRCh38
rs766200814 Chr.2: 27444173-27444173 on Build GRCh38
rs4803 Chr.2: 27444430-27444430 on Build GRCh38
rs894890263 Chr.2: 27444418-27444418 on Build GRCh38
rs62131871 Chr.2: 27444317-27444317 on Build GRCh38
rs368365597 Chr.2: 27444000-27444000 on Build GRCh38
rs187699375 Chr.2: 27444031-27444031 on Build GRCh38
rs936156237 Chr.2: 27444217-27444218 on Build GRCh38
rs962262793 Chr.2: 27444336-27444336 on Build GRCh38
rs756644767 Chr.2: 27444100-27444100 on Build GRCh38
rs763147273 Chr.2: 27444203-27444203 on Build GRCh38
rs771889359 Chr.2: 27444058-27444058 on Build GRCh38
rs995486332 Chr.2: 27444356-27444356 on Build GRCh38
rs1033400323 Chr.2: 27444154-27444154 on Build GRCh38
rs1054911867 Chr.2: 27444380-27444380 on Build GRCh38
rs757428770 Chr.2: 27444382-27444382 on Build GRCh38
rs538979229 Chr.2: 27444251-27444251 on Build GRCh38
rs567002799 Chr.2: 27444097-27444097 on Build GRCh38
rs753039284 Chr.2: 27444098-27444098 on Build GRCh38
rs755653071 Chr.2: 27444390-27444391 on Build GRCh38
rs573966162 Chr.2: 27444211-27444211 on Build GRCh38
rs199933840 Chr.2: 27444087-27444087 on Build GRCh38
rs991812572 Chr.2: 27444168-27444168 on Build GRCh38
rs776552648 Chr.2: 27444435-27444435 on Build GRCh38
rs745593932 Chr.2: 27444047-27444047 on Build GRCh38
rs779876638 Chr.2: 27444428-27444428 on Build GRCh38
rs775216589 Chr.2: 27444070-27444070 on Build GRCh38
rs750101396 Chr.2: 27444090-27444090 on Build GRCh38
rs375251963 Chr.2: 27444383-27444383 on Build GRCh38
rs768540015 Chr.2: 27444434-27444434 on Build GRCh38
rs778920690 Chr.2: 27444391-27444391 on Build GRCh38
rs959050431 Chr.2: 27444161-27444161 on Build GRCh38
rs112481808 Chr.2: 27444206-27444206 on Build GRCh38
rs748672726 Chr.2: 27444013-27444013 on Build GRCh38
rs1015839474 Chr.2: 27444139-27444139 on Build GRCh38
rs776068769 Chr.2: 27444078-27444078 on Build GRCh38
rs891082706 Chr.2: 27444302-27444302 on Build GRCh38
rs527418791 Chr.2: 27444284-27444284 on Build GRCh38
rs972055313 Chr.2: 27444200-27444200 on Build GRCh38
rs781492553 Chr.2: 27444003-27444003 on Build GRCh38
rs748029831 Chr.2: 27444044-27444044 on Build GRCh38
rs545654643 Chr.2: 27444270-27444270 on Build GRCh38
rs200649406 Chr.2: 27444015-27444015 on Build GRCh38
rs758040970 Chr.2: 27444094-27444094 on Build GRCh38
rs898288095 Chr.2: 27444146-27444146 on Build GRCh38
rs749405253 Chr.2: 27444030-27444030 on Build GRCh38
rs932681648 Chr.2: 27444254-27444254 on Build GRCh38
rs764727063 Chr.2: 27444088-27444088 on Build GRCh38
rs760575802 Chr.2: 27444073-27444073 on Build GRCh38

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