Product Details

Primer Sequences
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Primer Chromosome Location
Chr.18: 50250663-50250908 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
CFAP53
Entrez Gene ID
220136
Gene Name
cilia and flagella associated protein 53
Gene Aliases
CCDC11, HTX6
UniGene
Hs.658630
Gene Chromosome Location
Chr.18: 50227193-50266522 on Build GRCh38
Transcripts
NM_145020.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1247416 c.870delA p.A291fs*6 Chr.18: 50250884-50250884 on Build GRCh38
3726708 c.945A>G p.Q315Q Chr.18: 50250809-50250809 on Build GRCh38
5753083 c.979_980ins11 p.K329fs*11 Chr.18: 50250774-50250775 on Build GRCh38
395675 c.931A>G p.M311V Chr.18: 50250823-50250823 on Build GRCh38
6524228 c.883A>T p.R295W Chr.18: 50250871-50250871 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs973591143 Chr.18: 50250866-50250866 on Build GRCh38
rs758012332 Chr.18: 50250817-50250817 on Build GRCh38
rs368815693 Chr.18: 50250809-50250809 on Build GRCh38
rs369588820 Chr.18: 50250781-50250781 on Build GRCh38
rs757896182 Chr.18: 50250732-50250732 on Build GRCh38
rs766597244 Chr.18: 50250692-50250692 on Build GRCh38
rs772237457 Chr.18: 50250776-50250776 on Build GRCh38
rs777299096 Chr.18: 50250734-50250734 on Build GRCh38
rs201166301 Chr.18: 50250757-50250757 on Build GRCh38
rs780902052 Chr.18: 50250761-50250761 on Build GRCh38
rs755904839 Chr.18: 50250869-50250869 on Build GRCh38
rs373718138 Chr.18: 50250789-50250789 on Build GRCh38
rs748355157 Chr.18: 50250775-50250775 on Build GRCh38
rs372335981 Chr.18: 50250813-50250813 on Build GRCh38
rs897584290 Chr.18: 50250877-50250877 on Build GRCh38
rs764929986 Chr.18: 50250707-50250707 on Build GRCh38
rs34499039 Chr.18: 50250844-50250844 on Build GRCh38
rs746903023 Chr.18: 50250751-50250751 on Build GRCh38
rs575195344 Chr.18: 50250858-50250858 on Build GRCh38
rs769530411 Chr.18: 50250770-50250770 on Build GRCh38
rs769199660 Chr.18: 50250760-50250761 on Build GRCh38
rs763540138 Chr.18: 50250823-50250823 on Build GRCh38
rs35308427 Chr.18: 50250815-50250815 on Build GRCh38
rs1014638111 Chr.18: 50250822-50250822 on Build GRCh38
rs35193847 Chr.18: 50250874-50250874 on Build GRCh38
rs377760231 Chr.18: 50250718-50250718 on Build GRCh38
rs772434872 Chr.18: 50250882-50250882 on Build GRCh38
rs774607248 Chr.18: 50250774-50250774 on Build GRCh38
rs745667974 Chr.18: 50250762-50250762 on Build GRCh38
rs748351880 Chr.18: 50250878-50250878 on Build GRCh38
rs781090283 Chr.18: 50250857-50250857 on Build GRCh38
rs928657931 Chr.18: 50250750-50250750 on Build GRCh38
rs376463544 Chr.18: 50250814-50250814 on Build GRCh38
rs751078877 Chr.18: 50250838-50250838 on Build GRCh38
rs567211558 Chr.18: 50250819-50250819 on Build GRCh38
rs773446860 Chr.18: 50250787-50250787 on Build GRCh38

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